ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.255G>T (p.Val85=)

gnomAD frequency: 0.00001  dbSNP: rs750126868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002433383 SCV002741166 likely benign Cardiovascular phenotype 2021-11-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101975 SCV003519300 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943407 SCV004761147 likely benign BAG3-related disorder 2019-04-02 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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