ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter)

dbSNP: rs2134069248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885176 SCV002151880 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-04-04 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 25008357). For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the BAG3 protein. Other variant(s) that result in a similarly extended protein product (p.Glu471Argfs*95) have been determined to be pathogenic (Invitae). This suggests that these extensions are likely to be causative of disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr451*) in the BAG3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 125 amino acid(s) of the BAG3 protein.

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