VCV000181126.28 - ClinVar

NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)

Germline

Classification

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

Uncertain significance
Uncertain significance (11)

11 out of 14 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

NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)

Variation ID: 181126 Accession: VCV000181126.28

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 11p11.2 11: 47338630 (GRCh38) [ NCBI UCSC ] 11: 47360181 (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	Jan 7, 2017	Apr 25, 2026	Jan 26, 2026

HGVS

Nucleotide	Protein	Molecular consequence
NM_000256.3:c.2198G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000247.2:p.Arg733His	missense
NC_000011.10:g.47338630C>T
NC_000011.9:g.47360181C>T
NG_007667.1:g.19073G>A
LRG_386:g.19073G>A
LRG_386t1:c.2198G>A	LRG_386p1:p.Arg733His

... more HGVS ... less HGVS

Protein change

R733H

Other names

p.R733H:CGC>CAC

Canonical SPDI

NC_000011.10:47338629:C:T

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.

0.00020 (T)

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

The Genome Aggregation Database (gnomAD) 0.00003

1000 Genomes Project 30x 0.00031

Trans-Omics for Precision Medicine (TOPMed) 0.00005

The Genome Aggregation Database (gnomAD) 0.00007

1000 Genomes Project 0.00020

Links

ClinGen: CA011887 dbSNP: rs534345197 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	4724	4746

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.
not provided	Uncertain significance (3)	criteria provided, multiple submitters, no conflicts	Mar 6, 2025	RCV000158442.8
Hypertrophic cardiomyopathy 4	Uncertain significance (3)	criteria provided, multiple submitters, no conflicts	May 28, 2019	RCV000611582.3
Cardiomyopathy	Uncertain significance (2)	criteria provided, multiple submitters, no conflicts	Jul 17, 2024	RCV000770336.8
Hypertrophic cardiomyopathy	Uncertain significance (2)	criteria provided, multiple submitters, no conflicts	Dec 19, 2025	RCV001047239.11
Cardiovascular phenotype	Uncertain significance (2)	criteria provided, multiple submitters, no conflicts	Jan 26, 2026	RCV002426775.4
Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10	Uncertain significance (1)	criteria provided, single submitter	Dec 15, 2021	RCV002492621.1
MYBPC3-related disorder	Uncertain significance (1)	no assertion criteria provided	Aug 14, 2024	RCV004739485.1

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.
Uncertain significance (Mar 06, 2025) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	not provided	GeneDx Accession: SCV000208377.12 First in ClinVar: Feb 24, 2015 Last updated: Mar 16, 2025	Comment: show Identified in patients with HCM in published literature; however, at least one proband harbored an additional variant that likely contributed to the phenotype, and several unaffected relatives were found to be heterozygous for this variant (PMID: 19150014, 20800588, 27532257, 37652022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20800588, 27532257, 37652022, 19150014) (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

Uncertain significance (Mar 03, 2016) 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: SCV000743556.1 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

Uncertain significance (May 28, 2019) C Contributing to aggregate classification	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Hypertrophic cardiomyopathy 4	Mendelics Accession: SCV001138298.1 First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Uncertain significance (Dec 15, 2021) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10	Fulgent Genetics, Fulgent Genetics Accession: SCV002776091.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Uncertain significance (Jun 15, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Cardiomyopathy	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario Study: Canadian Open Genetics Repository Accession: SCV000901770.2 First in ClinVar: May 06, 2019 Last updated: Mar 11, 2023	Publications: PubMed (1) PubMed: 25741868 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Uncertain Significance (Jul 29, 2024) 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: SCV004842375.2 First in ClinVar: Apr 20, 2024 Last updated: Dec 14, 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 (2) PubMed: 19150014‚ 27600940 Comment: show This missense variant replaces arginine with histidine at codon 733 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in two individuals affected with hypertrophic cardiomyopathy (PMID: 19150014, 27600940). This variant has also been identified in 14/280128 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (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: 10 Zygosity: 10 Single Heterozygotes

Uncertain significance (Jul 17, 2024) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Cardiomyopathy	Color Diagnostics, LLC DBA Color Health Accession: SCV001340864.4 First in ClinVar: Jun 22, 2020 Last updated: May 03, 2025	Publications: PubMed (8) PubMed: 19150014‚ 27532257‚ 27600940‚ 29764897‚ 32841044‚ 33495596‚ 33495597‚ 37904629 Comment: show This missense variant replaces arginine with histidine at codon 733 of the MYBPC3 protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 19150014, 27532257, 27600940, 29764897, 32841044, 33495596, 33495597), and in an individual affected with dilated cardiomyopathy (PMID: 37904629). This variant has been identified in 14/280128 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (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

Uncertain significance (Dec 19, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Hypertrophic cardiomyopathy	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001211179.6 First in ClinVar: Apr 15, 2020 Last updated: Mar 07, 2026	Publications: PubMed (5) PubMed: 19150014‚ 27532257‚ 29764897‚ 37652022‚ 37904629 Comment: show This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 733 of the MYBPC3 protein (p.Arg733His). This variant is present in population databases (rs534345197, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy and/or hypertrophic cardiomyopathy (PMID: 19150014, 27532257, 29764897, 37652022, 37904629). ClinVar contains an entry for this variant (Variation ID: 181126). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (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

Uncertain significance (Jan 26, 2026) C Contributing to aggregate classification	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Cardiovascular phenotype	Ambry Genetics Accession: SCV002730701.3 First in ClinVar: Nov 29, 2022 Last updated: Apr 25, 2026	Publications: PubMed (12) PubMed: 15519027‚ 19150014‚ 20800588‚ 21750094‚ 27532257‚ 27600940‚ 28356264‚ 28840316‚ 29764897‚ 29875424‚ 32841044‚ 33954932 Comment: show The p.R733H variant (also known as c.2198G>A), located in coding exon 23 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 2198. The arginine at codon 733 is replaced by histidine, an amino acid with highly similar properties. This variant co-occurred with a TNNT2 variant in an individual with hypertrophic cardiomyopathy (HCM), and was also detected in unaffected relatives (García-Castro M et al. Rev Esp Cardiol, 2009 Jan;62:48-56). This variant has also been detected in HCM cohorts; however, detail was limited (Cecconi M et al. Int. J. Mol. Med., 2016 Oct;38:1111-24; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Walsh R et al. Genet. Med., 2017 02;19:192-203; Sheikh N et al. Circulation. 2018 09;138(12):1184-1194). This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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

Uncertain significance (Apr 09, 2025) 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: SCV006065817.1 First in ClinVar: May 03, 2025 Last updated: May 03, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Uncertain significance (Jan 17, 2025) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Revvity Omics, Revvity Accession: SCV006317258.1 First in ClinVar: Sep 06, 2025 Last updated: Sep 06, 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

Uncertain significance (-) 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: SCV000733044.1 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

Uncertain significance (-) N Not contributing to aggregate classification	no assertion criteria provided	not provided	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center Study: VKGL Data-share Consensus Accession: SCV001970870.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 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

Uncertain significance (Aug 14, 2024) N Not contributing to aggregate classification	no assertion criteria provided	MYBPC3-related condition	PreventionGenetics, part of Exact Sciences Accession: SCV005366442.1 First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024	Comment: show The MYBPC3 c.2198G>A variant is predicted to result in the amino acid substitution p.Arg733His. This variant has been reported in individuals with hypertrophic cardiomyopathy (García-Castro et al. 2009. PubMed ID: 19150014; Table S1A, Walsh et al. 2017. PubMed ID: 27532257; Table S2, Tadros et al. 2021. PubMed ID: 33495596). However, this variant was also documented in unaffected family members or control individuals in population databases (García-Castro et al. 2009. PubMed ID: 19150014; Table S8, McGurk et al. 2023. PubMed ID: 37652022). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (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

Comment:

Identified in patients with HCM in published literature; however, at least one proband harbored an additional variant that likely contributed to the phenotype, and several unaffected relatives were found to be heterozygous for this variant (PMID: 19150014, 20800588, 27532257, 37652022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20800588, 27532257, 37652022, 19150014)

Comment:

This missense variant replaces arginine with histidine at codon 733 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in two individuals affected with hypertrophic cardiomyopathy (PMID: 19150014, 27600940). This variant has also been identified in 14/280128 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

Comment:

This missense variant replaces arginine with histidine at codon 733 of the MYBPC3 protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 19150014, 27532257, 27600940, 29764897, 32841044, 33495596, 33495597), and in an individual affected with dilated cardiomyopathy (PMID: 37904629). This variant has been identified in 14/280128 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

Comment:

This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 733 of the MYBPC3 protein (p.Arg733His). This variant is present in population databases (rs534345197, gnomAD 0.01%). This missense change has been observed in individual(s) with dilated cardiomyopathy and/or hypertrophic cardiomyopathy (PMID: 19150014, 27532257, 29764897, 37652022, 37904629). ClinVar contains an entry for this variant (Variation ID: 181126). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Comment:

The p.R733H variant (also known as c.2198G>A), located in coding exon 23 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 2198. The arginine at codon 733 is replaced by histidine, an amino acid with highly similar properties. This variant co-occurred with a TNNT2 variant in an individual with hypertrophic cardiomyopathy (HCM), and was also detected in unaffected relatives (García-Castro M et al. Rev Esp Cardiol, 2009 Jan;62:48-56). This variant has also been detected in HCM cohorts; however, detail was limited (Cecconi M et al. Int. J. Mol. Med., 2016 Oct;38:1111-24; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Walsh R et al. Genet. Med., 2017 02;19:192-203; Sheikh N et al. Circulation. 2018 09;138(12):1184-1194). This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

Comment:

The MYBPC3 c.2198G>A variant is predicted to result in the amino acid substitution p.Arg733His. This variant has been reported in individuals with hypertrophic cardiomyopathy (García-Castro et al. 2009. PubMed ID: 19150014; Table S1A, Walsh et al. 2017. PubMed ID: 27532257; Table S2, Tadros et al. 2021. PubMed ID: 33495596). However, this variant was also documented in unaffected family members or control individuals in population databases (García-Castro et al. 2009. PubMed ID: 19150014; Table S8, McGurk et al. 2023. PubMed ID: 37652022). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.	Perret C	Clinical genetics	2024	PMID: 37904629
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.	McGurk KA	American journal of human genetics	2023	PMID: 37652022
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.	Janin A	Molecular diagnosis & therapy	2021	PMID: 33954932
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.	Harper AR	Nature genetics	2021	PMID: 33495597
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.	Tadros R	Nature genetics	2021	PMID: 33495596
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
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.	Mazzarotto F	Genetics in medicine : official journal of the American College of Medical Genetics	2019	PMID: 29875424
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.	Sheikh N	Circulation	2018	PMID: 29764897
Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.	Sedaghat-Hamedani F	Clinical research in cardiology : official journal of the German Cardiac Society	2018	PMID: 28840316
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.	Gómez J	Circulation. Cardiovascular genetics	2017	PMID: 28356264
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.	Walsh R	Genetics in medicine : official journal of the American College of Medical Genetics	2017	PMID: 27532257
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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S	Genetics in medicine : official journal of the American College of Medical Genetics	2015	PMID: 25741868
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.	Waldmüller S	European journal of heart failure	2011	PMID: 21750094
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.	Millat G	Clinica chimica acta; international journal of clinical chemistry	2010	PMID: 20800588
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].	García-Castro M	Revista espanola de cardiologia	2009	PMID: 19150014
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.	Van Driest SL	Journal of the American College of Cardiology	2004	PMID: 15519027
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Text-mined citations for rs534345197 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 03, 2026