ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer)

dbSNP: rs2134064943
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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 RCV001389199 SCV001590468 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2020-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser177*) in the BAG3 gene. It is expected to result in an absent or disrupted protein product. 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. Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357). For these reasons, this variant has been classified as Pathogenic.

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