ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5286C>T (p.Ala1762=)

gnomAD frequency: 0.00002  dbSNP: rs771432461
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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 RCV000220554 SCV000270462 likely benign not specified 2015-09-29 criteria provided, single submitter clinical testing p.Ala1762Ala in exon 37 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/16512 South Asi an chromosomes and 1/8654 East Asian chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs771432461).
Invitae RCV000891659 SCV001035485 likely benign Hypertrophic cardiomyopathy 2023-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525837 SCV001736034 likely benign Cardiomyopathy 2020-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347828 SCV002644754 likely benign Cardiovascular phenotype 2019-06-14 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.
PreventionGenetics, part of Exact Sciences RCV003977612 SCV004786422 likely benign MYH7-related condition 2021-08-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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