ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)

gnomAD frequency: 0.00038  dbSNP: rs143919208
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172521 SCV000051366 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037900 SCV000061562 uncertain significance not specified 2015-10-28 criteria provided, single submitter clinical testing The p.Ser274Leu variant in BAG3 has been identified by our laboratory in 1 Cauca sian infant with HCM and clinical features of Noonan syndrome and in 1 individua l with HCM. This variant has been identified in 0.1% (13/10264) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs143919208). Computational prediction tools and conservation analysis suggest that the p.Ser274Leu variant may not impact the protein, though this inf ormation is not predictive enough to rule out pathogenicity. In summary, the cli nical significance of the p.Ser274Leu variant is uncertain.
GeneDx RCV000172521 SCV000520173 benign not provided 2020-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Labcorp Genetics (formerly Invitae), Labcorp RCV001088222 SCV000561206 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426563 SCV002678296 likely benign Cardiovascular phenotype 2021-10-12 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.
Revvity Omics, Revvity RCV000172521 SCV003829754 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037900 SCV004804268 likely benign not specified 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003944914 SCV004760643 likely benign BAG3-related disorder 2023-06-27 no assertion criteria provided 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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