VCV000042663.55 - ClinVar

NC_000011.10:g.47335082_47335083del

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Pathogenic/Likely pathogenic
Pathogenic (22); Likely pathogenic (1)

23 out of 30 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_000011.10:g.47335082_47335083del

Variation ID: 42663 Accession: VCV000042663.55

Type and length

Deletion, 2 bp

Location

Cytogenetic: 11p11.2 11: 47335082-47335083 (GRCh38) [ NCBI UCSC ] 11: 47356633-47356634 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Sep 6, 2013	Aug 4, 2026	Feb 10, 2026

HGVS

Nucleotide	Protein	Molecular consequence
NM_000256.3:c.2864_2865delCT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NC_000011.10:g.47335082_47335083del
NC_000011.9:g.47356633_47356634del
NG_007667.1:g.22620_22621del
LRG_386:g.22620_22621del
LRG_386t1:c.2864_2865del	LRG_386p1:p.Pro955fs

... more HGVS ... less HGVS

Protein change

Other names

p.955RfsX95

Canonical SPDI

NC_000011.10:47335081:AG:

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD), exomes 0.00001

The Genome Aggregation Database (gnomAD) 0.00001

Trans-Omics for Precision Medicine (TOPMed) 0.00000

Links

ClinGen: CA013077 MYBPC3 homepage - Leiden Muscular Dystrophy pages: MYBPC3_00172 OMIM: 600958.0028 dbSNP: rs397515990 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
MYBPC3		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	4727	4749

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Hypertrophic cardiomyopathy 4	Pathogenic/Likely pathogenic (9)	criteria provided, multiple submitters, no conflicts	Jul 9, 2025	RCV000035533.20
Left ventricular noncompaction 10	Pathogenic (2)	criteria provided, single submitter	Jun 7, 2019	RCV000054803.9
not provided	Pathogenic (5)	criteria provided, multiple submitters, no conflicts	Dec 22, 2021	RCV000158381.16
Primary familial hypertrophic cardiomyopathy	Pathogenic (1)	criteria provided, single submitter	Apr 7, 2015	RCV000208060.3
Hypertrophic cardiomyopathy	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Jan 18, 2026	RCV000225856.23
Cardiovascular phenotype	Pathogenic (3)	criteria provided, multiple submitters, no conflicts	Feb 10, 2026	RCV000589120.5
Cardiomyopathy	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Apr 29, 2024	RCV001526044.7
Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Mar 21, 2024	RCV002496533.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Apr 07, 2015) C Contributing to aggregate classification	criteria provided, single submitter (Variant Classification)	Primary familial hypertrophic cardiomyopathy	Blueprint Genetics Accession: SCV000264057.2 First in ClinVar: Feb 27, 2016 Last updated: Sep 22, 2018	Publications: PubMed (7) PubMed: 19273718‚ 19574547‚ 20433692‚ 20505798‚ 21551322‚ 22115648‚ 9562578 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1

Pathogenic (Feb 20, 2015) C Contributing to aggregate classification	criteria provided, single submitter (LMM Criteria)	Hypertrophic cardiomyopathy	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000059183.5 First in ClinVar: May 03, 2013 Last updated: Apr 09, 2018	Publications: PubMed (9) PubMed: 12707239‚ 19273718‚ 19574547‚ 20433692‚ 20505798‚ 21551322‚ 22115648‚ 24602869‚ 9562578 Comment: show The p.Pro955fs variant in MYBPC3 has been identified in >20 individuals with HCM and has segregated with disease in >10 individuals across multiple families (Ch ristiaans 2010, Marston 2009, Nannenberg 2011, Niimuri 1998, Probst 2011, Richar d 2003, Rodriguez-Garcia 2010, van Dijk 2009, LMM unpublished data). This varian t has also been reported in two individuals with LVNC, both of whom carried a se cond pathogenic variant in MYBPC3 (Probst 2011, Schaefer 2014). This variant was also absent from large population studies. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 955 and lead t o a premature termination codon 95 amino acids downstream. This alteration is th en predicted to lead to a truncated or absent protein. Heterozygous loss of MYBP C3 function is an established disease mechanism in individuals with HCM. In summ ary, this variant meets our criteria to be classified as pathogenic for HCM in a n autosomal dominant manner (http://www.partners.org/personalizedmedicine/LMM) b ased upon segregation studies and its predicted impact on the protein. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: not provided more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: not provided Number of individuals with the variant: 38

Pathogenic (Dec 22, 2021) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	not provided	GeneDx Accession: SCV000208316.16 First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023	Comment: show Published functional study demonstrated that this deletion alters calcium sensitivity and the force-generating capacity of muscle cells (van Dijk et al. 2009); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22569109, 24602869, 31513939, 31737537, 23549607, 22115648, 19356534, 21257752, 9562578, 27532257, 26914223, 19574547, 21551322, 26671970, 28794111, 28615295, 28214152, 29121657, 25351510, 20505798, 19273718, 30847666, 32480058, 27600940, 26090888, 25335496, 24793961, 24510615, 21252143, 33662488, 34540771, 31589614, 26582918, 33673806, 34135346) (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jun 26, 2023) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Cardiomyopathy	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario Accession: SCV002042179.2 First in ClinVar: Dec 29, 2021 Last updated: Feb 04, 2024	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Oct 10, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Cardiovascular phenotype	Ambry Genetics Accession: SCV000737349.5 First in ClinVar: Mar 17, 2018 Last updated: Jan 11, 2026	Publications: PubMed (5) PubMed: 19273718‚ 19574547‚ 20505798‚ 24602869‚ 9562578 Comment: show The c.2864_2865delCT (p.P955Rfs*95) alteration, located in exon 27 (coding exon 27) of the MYBPC3 gene, consists of a deletion of 2 nucleotides from position 2864 to 2865, causing a translational frameshift with a predicted alternate stop codon after 95 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the c.2864_2865delCT allele has an overall frequency of <0.001% (1/264126) total alleles studied. The highest observed frequency was 0.001% (1/120700) of European (non-Finnish) alleles. This variant (also reported as delCT955) was reported in individual(s) with features consistent with MYBPC3-related cardiomyopathy (Niimura, 1998; Marston, 2009; van Dijk, 2009; Christiaans, 2010; Schaefer, 2014). Based on the available evidence, this alteration is classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Apr 20, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy 4 (Autosomal dominant inheritance)	Genetics and Molecular Pathology, SA Pathology Accession: SCV002761465.2 First in ClinVar: Dec 17, 2022 Last updated: Jul 14, 2026	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Likely pathogenic (-) C Contributing to aggregate classification	criteria provided, single submitter (LGCM Criteria August 2015)	Hypertrophic cardiomyopathy 4 (Autosomal dominant inheritance)	Laboratory of Genetics and Molecular Cardiology, University of São Paulo Study: Sarcomeric Human Cardiomyopathy Registry (ShaRe) Accession: SCV000256180.1 First in ClinVar: Nov 04, 2015 Last updated: Nov 04, 2015	Publications: PubMed (2) PubMed: 20505798‚ 22115648 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1

Pathogenic (Jun 20, 2017) C Contributing to aggregate classification	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Cardiovascular phenotype	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000696326.1 First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018	Publications: PubMed (2) PubMed: 20505798‚ 9562578 Comment: show Variant summary: The MYBPC3 c.2864_2865delCT (p.Pro955Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent MYBPC3 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 108262 control chromosomes. Multiple publications have cited this variant in affected individuals including its cosegregation with disease in a large HCM family (Niimura_1998). The variant of interest has been indicated to be a Dutch founder mutation (Christiaans_2010). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Oct 10, 2014) C Contributing to aggregate classification	criteria provided, single submitter (ACGS Guidelines, 2013)	Hypertrophic cardiomyopathy 4	Genome Diagnostics Laboratory, University Medical Center Utrecht Study: VKGL Data-share Consensus Accession: SCV000743546.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Sep 21, 2015) C Contributing to aggregate classification	criteria provided, single submitter (ACGS Guidelines, 2013)	Hypertrophic cardiomyopathy 4	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center Study: VKGL Data-share Consensus Accession: SCV000744833.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Mar 21, 2024) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.	Fulgent Genetics, Fulgent Genetics Accession: SCV002810325.2 First in ClinVar: Dec 31, 2022 Last updated: Jan 25, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Sep 25, 2017) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy 4	Center of Genomic medicine, Geneva, University Hospital of Geneva Accession: SCV000693467.3 First in ClinVar: Oct 22, 2016 Last updated: Apr 13, 2025	Comment: show This heterozygous frameshift variant in the MYBPC3 gene was identified in three members of the same family: the father, the daughter and the son. Both the father and the daughter were diagnosed with obstructive hypertrophic cardiomyopathy (less) Observation: 1 Collection method: clinical testing Allele origin: paternal Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: paternal Affected status: yes Age: 30-39 years Sex: female

Pathogenic (Jun 07, 2019) C Contributing to aggregate classification	criteria provided, single submitter (Classification criteria August 2017)	Left ventricular noncompaction 10 (Autosomal dominant inheritance)	Institute of Human Genetics Munich, TUM University Hospital Accession: SCV001429937.2 First in ClinVar: Aug 23, 2020 Last updated: Apr 13, 2025	Observation: 1 Collection method: clinical testing Allele origin: maternal Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: maternal Affected status: yes Zygosity: 1 Single Heterozygote Sex: male Tissue: blood

Pathogenic (Apr 29, 2024) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Cardiomyopathy	Color Diagnostics, LLC DBA Color Health Accession: SCV001736315.3 First in ClinVar: Jun 19, 2021 Last updated: May 03, 2025	Publications: PubMed (12) PubMed: 12707239‚ 19273718‚ 20433692‚ 21551322‚ 22115648‚ 24602869‚ 34542152‚ 34680864‚ 35288587‚ 35626289‚ 35653365‚ 36166435 Comment: show This variant deletes 2 nucleotides in exon 27 of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over 20 individuals affected with hypertrophic cardiomyopathy (PMID: 12707239, 19273718, 20433692, 22115648, 24602869, 34542152, 34680864, 35288587, 35626289, 35653365, 36166435). It has been shown that this variant segregates with disease in multiple families (PMID: 20433692, 24602869, 34680864). Additionally, the variant has been reported in two individuals affected with left ventricular noncompaction (PMID: 21551322, 24602869). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Platform type: NGS

Pathogenic (May 27, 2025) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy 4	Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Accession: SCV005398465.3 First in ClinVar: Nov 24, 2024 Last updated: Dec 01, 2025	Publications: PubMed (3) PubMed: 28615295‚ 32841044‚ 9562578 Comment: show This variant is classified as Pathogenic. Evidence in support of pathogenic classification: Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction); Variant is present in gnomAD <0.01 (v4: 11 heterozygote(s), 0 homozygote(s)) ; This variant has strong previous evidence of pathogenicity in unrelated individuals. This recurrent variant has previously been reported as pathogenic in multiple patients, both at VCGS and externally, and has been shown to segregate in families with autosomal dominant hypertrophic cardiomyopathy (ClinVar, PMID: 9562578, PMID: 28615295); Other NMD-predicted variant(s) comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). Additional information: This variant is heterozygous; This gene is associated with both recessive and dominant disease. Dominant inheritance is frequently reported in adult onset conditions and recessive inheritance results in a more severe early onset phenotype (OMIM); Loss of function is a known mechanism of disease in this gene and is associated with hypertrophic cardiomyopathy 4 (HCM; MIM#115197); Variants in this gene are known to have variable expressivity (PMID: 32841044); Inheritance information for this variant is not currently available in this individual. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: no Observation 1 Collection method: clinical testing Allele origin: germline Affected status: no

Pathogenic (Jan 18, 2026) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Hypertrophic cardiomyopathy	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000284234.13 First in ClinVar: Jul 01, 2016 Last updated: Feb 15, 2026	Publications: PubMed (5) PubMed: 19273718‚ 19574547‚ 20433692‚ 21551322‚ 28492532 Comment: show This sequence change creates a premature translational stop signal (p.Pro955Argfs*95) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant is present in population databases (rs397515990, gnomAD 0.0008%). This premature translational stop signal has been observed in individuals with hypertrophic cardiomyopathy (PMID: 19273718, 20433692, 21551322). ClinVar contains an entry for this variant (Variation ID: 42663). For these reasons, this variant has been classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jul 09, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Variantyx Assertion Criteria 2022)	Hypertrophic cardiomyopathy 4 (Autosomal dominant inheritance)	Variantyx, Inc. Accession: SCV007593602.1 First in ClinVar: May 16, 2026 Last updated: May 16, 2026	Publications: PubMed (7) PubMed: 19273718‚ 19356534‚ 19574547‚ 20505798‚ 21551322‚ 24602869‚ 9562578 Comment: show This is a frameshift variant in the MYBPC3 gene (OMIM: 600958). Pathogenic variants in this gene have been associated with autosomal dominant hypertrophic cardiomyopathy 4. This variant introduces a premature termination codon in exon 27 out of 35 and is expected to result in loss of function, which is a known disease mechanism for MYBPC3 in this disorder (PMID: 19574547) (PVS1). This variant has been reported in several unrelated affected individuals (PMID: 19273718, 24602869, 19574547, 9562578, 21551322, 20505798, 19356534) (PS4). It has a 0.0009% maximum allele frequency in non-founder control populations (https://gnomad.broadinstitute.org/) (PM2). Based on the current evidence, this variant is classified as pathogenic for autosomal dominant hypertrophic cardiomyopathy 4. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jul 17, 2014) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Stanford Center for Inherited Cardiovascular Disease, Stanford University Accession: SCV000280249.2 First in ClinVar: May 29, 2016 Last updated: Aug 04, 2026	Observation: 1 Collection method: provider interpretation Allele origin: germline Affected status: unknown Observation 1 Collection method: provider interpretation Allele origin: germline Affected status: unknown

Pathogenic (Oct 31, 2018) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy	Center for Human Genetics, University of Leuven Accession: SCV000886767.1 First in ClinVar: May 02, 2019 Last updated: May 02, 2019	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jul 11, 2023) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy (Autosomal dominant inheritance)	All of Us Research Program, National Institutes of Health Accession: SCV004836700.1 First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 Comment: This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more) This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)	Publications: PubMed (8) PubMed: 12707239‚ 19273718‚ 20433692‚ 20505798‚ 21551322‚ 22115648‚ 24602869‚ 32841044 Comment: show This variant deletes 2 nucleotides in exon 27 of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (HCM)(PMID: 12707239, 19273718, 20433692, 20505798, 22115648, 24602869, 32841044). It has been shown that this variant segregates with disease in families (PMID: 20433692, 24602869). Additionally, the variant has been reported in 2 individuals affected with left ventricular noncompaction (LVNC) (PMID: 21551322, 24602869). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Number of individuals with the variant: 3 Zygosity: 3 Single Heterozygotes

Pathogenic (Aug 15, 2022) C Contributing to aggregate classification	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.	New York Genome Center Accession: SCV003925265.2 First in ClinVar: May 20, 2023 Last updated: Dec 22, 2024	Comment: show The c.2864_2865del, p.(Pro955ArgfsTer95) variant identified in the MYBPC3 gene is a deletion of two nucleotides within exon 27/35 which leads to a frameshift of the protein at amino acid 955/1275, and is predicted to lead to the premature termination of the protein approximately 95 amino acids downstream. This variant is found with low frequency in population databases gnomADv2.1.1, gnomADv3.1.2, TOPMed Freeze 8, All of Us (allele frequency=6.80e-6) suggesting it is not a common benign variant in the populations represented in those databases. This variant is reported as Pathogenic/Likely Pathogenic in ClinVar(VarID:42663) and has been reported in many individuals in the literature with cardiomyopathy [PMID:19273718, 20433692, 24510615, others]. Given its deleterious nature, low frequency in population databases, and observation in multiple affected individuals in the literature, the c.2864_2865del,p.(Pro955ArgfsTer95) variant identified in the MYBPC3 gene is reported as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Clinical Features: Cardiomyopathy (present) Test name: whole genome sequencing Zygosity: 1 Single Heterozygote Secondary finding: no Platform name: NovaSeq 6000

Pathogenic (Oct 23, 2020) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided (Unknown mechanism)	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001448130.2 First in ClinVar: Nov 28, 2020 Last updated: Apr 13, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Clinical Features: Hypertrophic cardiomyopathy (present) , Tachycardia (present) , Atrial fibrillation (present) Sex: female

Pathogenic (Feb 10, 2026) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Cardiovascular phenotype	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute Accession: SCV007542401.1 First in ClinVar: Apr 25, 2026 Last updated: Apr 25, 2026	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	Hypertrophic cardiomyopathy 4	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV000733033.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Dec 12, 2019) N Not contributing to aggregate classification	no assertion criteria provided	Hypertrophic cardiomyopathy (Autosomal dominant inheritance)	Agnes Ginges Centre for Molecular Cardiology, Centenary Institute Accession: SCV001430863.1 First in ClinVar: Aug 23, 2020 Last updated: Aug 23, 2020	Publications: PubMed (26) PubMed: 12707239‚ 15519027‚ 19273718‚ 19356534‚ 19574547‚ 20433692‚ 20505798‚ 21252143‚ 21551322‚ 22115648‚ 22569109‚ 23164068‚ 23549607‚ 24510615‚ 24602869‚ 24793961‚ 25086479‚ 25335496‚ 25631583‚ 26090888‚ 26671970‚ 27600940‚ 28408708‚ 28615295‚ 28971120‚ 9562578 Comment: show The MYBPC3 Pro955Argfs95 has been seen in many HCM probands, is a well established Dutch Founder and has been reported to segregate in several families. A study comparing contractile performance in cardiac muscle samples showed that Pro955Argfs95 reduced cMyBPC protein levels. This lowered protein level resulted in a decline in the maximum force of the cells and correlated to reduced protein expression consequently altering calcium homeostasis and phospholyration (van Dijk SJ, et al., 2009). This variant is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We have identified this variant in 9 HCM probands (Ingles et al., 2017; Ross et al., 2017; Ingles et al., 2015). Based on the adapted ACMG guidelines (Kelly et al., 2018), this variant results in loss of function of MYBPC3 (PVS1), has been reported in more than 15 HCM probands (PS4), cosegregates with HCM in families (PP1_strong) and is rare in the general population (PM2), therefore we classify MYBPC3 Pro955Argfs*95 as "pathogenic". (less) Observation: 1 Collection method: research Allele origin: germline Affected status: yes Observation 1 Collection method: research Allele origin: germline Affected status: yes

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	not provided	Clinical Genetics, Academic Medical Center Study: VKGL Data-share Consensus Accession: SCV001923951.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jun 02, 2022) N Not contributing to aggregate classification	no assertion criteria provided	Hypertrophic cardiomyopathy 4	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein Accession: SCV002583474.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	hypertrophic cardiomyopathy	Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics Accession: SCV005374566.1 First in ClinVar: Oct 20, 2024 Last updated: Oct 20, 2024	Observation: 1 Collection method: research Allele origin: unknown Affected status: yes Observation 1 Collection method: research Allele origin: unknown Affected status: yes

Pathogenic (Aug 01, 2011) N Not contributing to aggregate classification	no assertion criteria provided	LEFT VENTRICULAR NONCOMPACTION 10	OMIM Accession: SCV000083048.1 First in ClinVar: Sep 06, 2013 Last updated: Sep 06, 2013	Publications: PubMed (1) PubMed: 21551322 Observation: 1 Collection method: literature only Allele origin: germline Affected status: not provided more Observation 1 Collection method: literature only Allele origin: germline Affected status: not provided Comment on evidence: In a white woman of western European descent with left ventricular noncompaction (LVNC10; see 615396), who had nonsustained ventricular flutter and received an implantable cardioverter-defibrillator, … (more) In a white woman of western European descent with left ventricular noncompaction (LVNC10; see 615396), who had nonsustained ventricular flutter and received an implantable cardioverter-defibrillator, Probst et al. (2011) identified heterozygosity for a 2-bp deletion (c.2919_2920delCT) in exon 28 of the MYBPC3 gene, causing a frameshift predicted to result in a premature termination codon in exon 30 (Pro955ArgfsTer95). The mutation was also detected in her 14-year-old unaffected daughter. (less)

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	not provided	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Study: VKGL Data-share Consensus Accession: SCV001951250.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Comment:

The p.Pro955fs variant in MYBPC3 has been identified in >20 individuals with HCM and has segregated with disease in >10 individuals across multiple families (Ch ristiaans 2010, Marston 2009, Nannenberg 2011, Niimuri 1998, Probst 2011, Richar d 2003, Rodriguez-Garcia 2010, van Dijk 2009, LMM unpublished data). This varian t has also been reported in two individuals with LVNC, both of whom carried a se cond pathogenic variant in MYBPC3 (Probst 2011, Schaefer 2014). This variant was also absent from large population studies. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 955 and lead t o a premature termination codon 95 amino acids downstream. This alteration is th en predicted to lead to a truncated or absent protein. Heterozygous loss of MYBP C3 function is an established disease mechanism in individuals with HCM. In summ ary, this variant meets our criteria to be classified as pathogenic for HCM in a n autosomal dominant manner (http://www.partners.org/personalizedmedicine/LMM) b ased upon segregation studies and its predicted impact on the protein.

Comment:

Published functional study demonstrated that this deletion alters calcium sensitivity and the force-generating capacity of muscle cells (van Dijk et al. 2009); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22569109, 24602869, 31513939, 31737537, 23549607, 22115648, 19356534, 21257752, 9562578, 27532257, 26914223, 19574547, 21551322, 26671970, 28794111, 28615295, 28214152, 29121657, 25351510, 20505798, 19273718, 30847666, 32480058, 27600940, 26090888, 25335496, 24793961, 24510615, 21252143, 33662488, 34540771, 31589614, 26582918, 33673806, 34135346)

Comment:

The c.2864_2865delCT (p.P955Rfs*95) alteration, located in exon 27 (coding exon 27) of the MYBPC3 gene, consists of a deletion of 2 nucleotides from position 2864 to 2865, causing a translational frameshift with a predicted alternate stop codon after 95 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the c.2864_2865delCT allele has an overall frequency of <0.001% (1/264126) total alleles studied. The highest observed frequency was 0.001% (1/120700) of European (non-Finnish) alleles. This variant (also reported as delCT955) was reported in individual(s) with features consistent with MYBPC3-related cardiomyopathy (Niimura, 1998; Marston, 2009; van Dijk, 2009; Christiaans, 2010; Schaefer, 2014). Based on the available evidence, this alteration is classified as pathogenic.

Comment:

Variant summary: The MYBPC3 c.2864_2865delCT (p.Pro955Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent MYBPC3 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 108262 control chromosomes. Multiple publications have cited this variant in affected individuals including its cosegregation with disease in a large HCM family (Niimura_1998). The variant of interest has been indicated to be a Dutch founder mutation (Christiaans_2010). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

Comment:

This variant deletes 2 nucleotides in exon 27 of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over 20 individuals affected with hypertrophic cardiomyopathy (PMID: 12707239, 19273718, 20433692, 22115648, 24602869, 34542152, 34680864, 35288587, 35626289, 35653365, 36166435). It has been shown that this variant segregates with disease in multiple families (PMID: 20433692, 24602869, 34680864). Additionally, the variant has been reported in two individuals affected with left ventricular noncompaction (PMID: 21551322, 24602869). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

Comment:

This variant is classified as Pathogenic. Evidence in support of pathogenic classification: Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction); Variant is present in gnomAD <0.01 (v4: 11 heterozygote(s), 0 homozygote(s)) ; This variant has strong previous evidence of pathogenicity in unrelated individuals. This recurrent variant has previously been reported as pathogenic in multiple patients, both at VCGS and externally, and has been shown to segregate in families with autosomal dominant hypertrophic cardiomyopathy (ClinVar, PMID: 9562578, PMID: 28615295); Other NMD-predicted variant(s) comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). Additional information: This variant is heterozygous; This gene is associated with both recessive and dominant disease. Dominant inheritance is frequently reported in adult onset conditions and recessive inheritance results in a more severe early onset phenotype (OMIM); Loss of function is a known mechanism of disease in this gene and is associated with hypertrophic cardiomyopathy 4 (HCM; MIM#115197); Variants in this gene are known to have variable expressivity (PMID: 32841044); Inheritance information for this variant is not currently available in this individual.

Comment:

This sequence change creates a premature translational stop signal (p.Pro955Argfs*95) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant is present in population databases (rs397515990, gnomAD 0.0008%). This premature translational stop signal has been observed in individuals with hypertrophic cardiomyopathy (PMID: 19273718, 20433692, 21551322). ClinVar contains an entry for this variant (Variation ID: 42663). For these reasons, this variant has been classified as Pathogenic.

Comment:

This is a frameshift variant in the MYBPC3 gene (OMIM: 600958). Pathogenic variants in this gene have been associated with autosomal dominant hypertrophic cardiomyopathy 4. This variant introduces a premature termination codon in exon 27 out of 35 and is expected to result in loss of function, which is a known disease mechanism for MYBPC3 in this disorder (PMID: 19574547) (PVS1). This variant has been reported in several unrelated affected individuals (PMID: 19273718, 24602869, 19574547, 9562578, 21551322, 20505798, 19356534) (PS4). It has a 0.0009% maximum allele frequency in non-founder control populations (https://gnomad.broadinstitute.org/) (PM2). Based on the current evidence, this variant is classified as pathogenic for autosomal dominant hypertrophic cardiomyopathy 4.

Comment:

This variant deletes 2 nucleotides in exon 27 of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (HCM)(PMID: 12707239, 19273718, 20433692, 20505798, 22115648, 24602869, 32841044). It has been shown that this variant segregates with disease in families (PMID: 20433692, 24602869). Additionally, the variant has been reported in 2 individuals affected with left ventricular noncompaction (LVNC) (PMID: 21551322, 24602869). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

Comment:

The c.2864_2865del, p.(Pro955ArgfsTer95) variant identified in the MYBPC3 gene is a deletion of two nucleotides within exon 27/35 which leads to a frameshift of the protein at amino acid 955/1275, and is predicted to lead to the premature termination of the protein approximately 95 amino acids downstream. This variant is found with low frequency in population databases gnomADv2.1.1, gnomADv3.1.2, TOPMed Freeze 8, All of Us (allele frequency=6.80e-6) suggesting it is not a common benign variant in the populations represented in those databases. This variant is reported as Pathogenic/Likely Pathogenic in ClinVar(VarID:42663) and has been reported in many individuals in the literature with cardiomyopathy [PMID:19273718, 20433692, 24510615, others]. Given its deleterious nature, low frequency in population databases, and observation in multiple affected individuals in the literature, the c.2864_2865del,p.(Pro955ArgfsTer95) variant identified in the MYBPC3 gene is reported as Pathogenic.

Comment:

The MYBPC3 Pro955Argfs*95 has been seen in many HCM probands, is a well established Dutch Founder and has been reported to segregate in several families. A study comparing contractile performance in cardiac muscle samples showed that Pro955Argfs*95 reduced cMyBPC protein levels. This lowered protein level resulted in a decline in the maximum force of the cells and correlated to reduced protein expression consequently altering calcium homeostasis and phospholyration (van Dijk SJ, et al., 2009). This variant is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We have identified this variant in 9 HCM probands (Ingles et al., 2017; Ross et al., 2017; Ingles et al., 2015). Based on the adapted ACMG guidelines (Kelly et al., 2018), this variant results in loss of function of MYBPC3 (PVS1), has been reported in more than 15 HCM probands (PS4), cosegregates with HCM in families (PP1_strong) and is rare in the general population (PM2), therefore we classify MYBPC3 Pro955Argfs*95 as "pathogenic".

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.	Trachoo O	PloS one	2022	PMID: 36166435
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.	Stava TT	European journal of preventive cardiology	2022	PMID: 35653365
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.	Sepp R	Diagnostics (Basel, Switzerland)	2022	PMID: 35626289
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.	Lesurf R	NPJ genomic medicine	2022	PMID: 35288587
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.	Park J	Human molecular genetics	2022	PMID: 34542152
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.	Höller V	Genes	2021	PMID: 34680864
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.	Helms AS	Circulation. Genomic and precision medicine	2020	PMID: 32841044
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.	Dejgaard LA	Data in brief	2017	PMID: 28971120
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.	Ross SB	Circulation. Cardiovascular genetics	2017	PMID: 28615295
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.	Ingles J	Circulation. Cardiovascular genetics	2017	PMID: 28408708
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.	Cecconi M	International journal of molecular medicine	2016	PMID: 27600940
Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection.	Ingles J	Circulation. Cardiovascular genetics	2015	PMID: 26671970
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.	Liu X	Scientific reports	2015	PMID: 26090888
Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations.	Olivotto I	Cardiovascular research	2015	PMID: 25631583
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.	Wessels MW	European journal of human genetics : EJHG	2015	PMID: 25335496
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.	Chiou KR	Journal of cardiology	2015	PMID: 25086479
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.	Bos JM	Mayo Clinic proceedings	2014	PMID: 24793961
Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.	Schaefer E	European journal of medical genetics	2014	PMID: 24602869
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.	Kapplinger JD	Journal of cardiovascular translational research	2014	PMID: 24510615
T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.	Ho CY	Circulation. Cardiovascular imaging	2013	PMID: 23549607
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.	Stubbs A	Journal of clinical bioinformatics	2012	PMID: 23164068
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.	Kolder IC	European journal of human genetics : EJHG	2012	PMID: 22569109
Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.	Nannenberg EA	Journal of the American College of Cardiology	2011	PMID: 22115648
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.	Probst S	Circulation. Cardiovascular genetics	2011	PMID: 21551322
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.	Meder B	Circulation. Cardiovascular genetics	2011	PMID: 21252143
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.	Christiaans I	Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation	2010	PMID: 20505798
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.	Rodríguez-García MI	BMC medical genetics	2010	PMID: 20433692
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.	Marston S	Circulation research	2009	PMID: 19574547
Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.	Michels M	JACC. Cardiovascular imaging	2009	PMID: 19356534
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.	van Dijk SJ	Circulation	2009	PMID: 19273718
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.	Van Driest SL	Journal of the American College of Cardiology	2004	PMID: 15519027
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.	Richard P	Circulation	2003	PMID: 12707239
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.	Niimura H	The New England journal of medicine	1998	PMID: 9562578
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Record last updated Aug 04, 2026