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NM_000257.4(MYH7):c.789A>G (p.Ile263Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 20, 2019
Accession:
VCV000181326.3
Variation ID:
181326
Description:
single nucleotide variant
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NM_000257.4(MYH7):c.789A>G (p.Ile263Met)

Allele ID
179676
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 23431425 (GRCh38) GRCh38 UCSC
14: 23900634 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_384t1:c.789A>G
P12883:p.Ile263Met
NC_000014.8:g.23900634T>C
... more HGVS
Protein change
I263M
Other names
-
Canonical SPDI
NC_000014.9:23431424:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016828
UniProtKB: P12883#VAR_042772
dbSNP: rs730880855
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 Nov 6, 2015 RCV000208372.1
Uncertain significance 1 criteria provided, single submitter Jun 20, 2019 RCV001210689.2
Uncertain significance 1 no assertion criteria provided Aug 26, 2015 RCV000223688.1
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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
(Nov 06, 2015)
criteria provided, single submitter
Method: clinical testing
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000264076.2
Submitted: (Jan 15, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jun 20, 2019)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001382187.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces isoleucine with methionine at codon 263 of the MYH7 protein (p.Ile263Met). The isoleucine residue is highly conserved and there is a … (more)
Uncertain significance
(Aug 26, 2015)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280381.1
Submitted: (May 06, 2016)
Evidence details
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)

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
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. Homburger JR Proceedings of the National Academy of Sciences of the United States of America 2016 PMID: 27247418
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. Marsiglia JD American heart journal 2013 PMID: 24093860
Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting. Santos S Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2011 PMID: 21425739
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. Van Driest SL Journal of the American College of Cardiology 2004 PMID: 15358028
Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up. Brito D Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2003 PMID: 15008060
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Richard P Circulation 2003 PMID: 12707239
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. Tesson F Human mutation 1998 PMID: 9829907

Text-mined citations for rs730880855...

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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