ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.277dup (p.Tyr93fs)

dbSNP: rs1564773589
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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 RCV000686092 SCV000813595 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2018-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr93Leufs*9) in the BAG3 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357). This variant has not been reported in the literature in individuals with BAG3-related disease. This variant is not present in population databases (ExAC no frequency).

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