ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1511_1521del (p.Gln504fs)

dbSNP: rs2494024319
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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 RCV002913517 SCV003254889 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-12-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln504Leufs*2) in the BAG3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 72 amino acid(s) of the BAG3 protein.

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