ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.730C>T (p.Gln244Ter) (rs876657634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689286 SCV000816928 pathogenic Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln244*) 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 disease. ClinVar contains an entry for this variant (Variation ID: 228246). Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215570 SCV000271206 likely pathogenic Primary dilated cardiomyopathy 2017-04-07 criteria provided, single submitter clinical testing The p.Gln244X variant in BAG3 has been identified by our laboratory in 1 individ ual with DCM and segregated with disease in 2 affected relatives (including 1 ob ligate carrier; LMM data). It was also absent from large population studies. Thi s variant has been reported in ClinVar (Variation ID 228246). This nonsense vari ant leads to a premature termination codon at position 244, which is predicted t o lead to a truncated or absent protein. Nonsense and other truncating variants in BAG3 are associated with DCM (Norton 2011, Villard 2011, Konersman 2015). In summary, although additional studies are required to fully establish its clinica l significance, the p.Gln244X variant is likely pathogenic.

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