ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.822G>A (p.Ser274=)

gnomAD frequency: 0.00005  dbSNP: rs776700820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722633 SCV000717223 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648851 SCV000770672 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431771 SCV002681831 likely benign Cardiovascular phenotype 2020-11-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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