ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)

dbSNP: rs2134050486
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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 RCV001994496 SCV002231645 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1452208). This sequence change creates a premature translational stop signal (p.Ser14Argfs*198) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAG3-related conditions.

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