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NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 25, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000043093.8
Variation ID:
43093
Description:
single nucleotide variant
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NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)

Allele ID
52263
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 23431798 (GRCh38) GRCh38 UCSC
14: 23901007 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P12883:p.Ile201Thr
NC_000014.8:g.23901007A>G
NC_000014.9:g.23431798A>G
... more HGVS
Protein change
I201T
Other names
p.I201T:ATT>ACT
Canonical SPDI
NC_000014.9:23431797:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016526
UniProtKB: P12883#VAR_042768
dbSNP: rs397516258
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 2, 2014 RCV000035988.3
Likely pathogenic 3 criteria provided, single submitter Feb 28, 2020 RCV000158747.5
Likely pathogenic 1 criteria provided, single submitter Jun 20, 2016 RCV000587084.1
Pathogenic 1 criteria provided, single submitter Oct 1, 2020 RCV001054799.2
Likely pathogenic 1 criteria provided, single submitter Mar 28, 2018 RCV001170747.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH7 No evidence available No evidence available GRCh38
GRCh37
2445 2959

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 20, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696359.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Jan 02, 2014)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059640.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Likely pathogenic
(Feb 28, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000208682.12
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Reported in ClinVar as a likely pathogenic variant (ClinVar Variant ID 43093; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., … (more)
Likely pathogenic
(Mar 28, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333352.1
Submitted: (Mar 03, 2020)
Evidence details
Pathogenic
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001219150.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces isoleucine with threonine at codon 201 of the MYH7 protein (p.Ile201Thr). The isoleucine residue is highly conserved and there is a … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920032.1
Submitted: (Sep 23, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975277.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
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
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Pugh TJ Genetics in medicine : official journal of the American College of Medical Genetics 2014 PMID: 24503780
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Villard E European heart journal 2005 PMID: 15769782

Text-mined citations for rs397516258...

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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 Nov 27, 2021