ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1926G>A (p.Ser642=)

gnomAD frequency: 0.00001  dbSNP: rs397516126
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Total submissions: 5
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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 RCV000035755 SCV000059406 likely benign not specified 2010-08-13 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. Therefore, it is unlikely that this variant is disease-causing.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170505 SCV001333088 likely benign Cardiomyopathy 2020-07-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170505 SCV001349208 likely benign Cardiomyopathy 2019-05-22 criteria provided, single submitter clinical testing
Invitae RCV001395253 SCV001596956 likely benign Hypertrophic cardiomyopathy 2022-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408506 SCV002721536 likely benign Cardiovascular phenotype 2022-10-23 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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