ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.488del (p.Pro163fs)

dbSNP: rs1847128695
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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 RCV001994855 SCV002233932 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro163Glnfs*48) in the BAG3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BAG3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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