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NM_000257.4(MYH7):c.596C>T (p.Ala199Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: May 27, 2021)
Last evaluated:
Dec 18, 2020
Accession:
VCV000177692.3
Variation ID:
177692
Description:
single nucleotide variant
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NM_000257.4(MYH7):c.596C>T (p.Ala199Val)

Allele ID
175511
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 23431804 (GRCh38) GRCh38 UCSC
14: 23901013 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.23901013G>A
NC_000014.9:g.23431804G>A
NM_000257.4:c.596C>T MANE Select NP_000248.2:p.Ala199Val missense
... more HGVS
Protein change
A199V
Other names
p.A199V:GCA>GTA
Canonical SPDI
NC_000014.9:23431803:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016513
dbSNP: rs727504283
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 18, 2020 RCV000706637.2
Likely pathogenic 2 criteria provided, single submitter Feb 16, 2018 RCV000158746.2
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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
2444 2958

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000835700.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces alanine with valine at codon 199 of the MYH7 protein (p.Ala199Val). The alanine residue is highly conserved and there is a … (more)
Likely pathogenic
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000208681.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A199V likely pathogenic variant in the MYH7 gene has previously been reported in association with HCM (Alfares et al., 2015; Adler et al., 2016; … (more)
Likely pathogenic
(Dec 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000203951.4
Submitted: (May 27, 2021)
Evidence details
Publications
PubMed (3)
Comment:
The p.Ala199Val variant in MYH7 has been identified by our laboratory in at least 3 individuals with HCM and segregated with disease in several affected … (more)
Likely pathogenic
(Jan 16, 2012)
no assertion criteria provided
Method: clinical testing
Not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280372.1
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Alfares AA Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25611685
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Pan S Circulation. Cardiovascular genetics 2012 PMID: 23074333
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Jordan DM American journal of human genetics 2011 PMID: 21310275

Text-mined citations for rs727504283...

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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 Jul 07, 2021