ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)

dbSNP: rs564367705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605334 SCV000713213 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing The p.Ser1149Arg variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.10% (10/9638) of Ashkenazi Je wish chromosomes by the genome Aggregation Database (gnomAD, http://gnomad.broad institute.org/; dbSNP rs564367705). Computational prediction tools and conservat ion analysis suggest that the p.Ser1149Arg variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Ser1149Arg variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170239 SCV001332799 likely benign Cardiomyopathy 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV002062143 SCV002353114 likely benign Hypertrophic cardiomyopathy 14 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456319 SCV002615406 likely benign Cardiovascular phenotype 2021-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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