ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.268C>T (p.Arg90Ter) (rs1057517945)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412874 SCV000491145 pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing The R90X pathogenic variant in the BAG3 gene has been previously reported in two individuals with a clinical diagnosis of DCM (Norton et al., 2011; Janin et al., 2017). This variant has also been identified in other unrelated individuals referred for cardiomyopathy genetic testing at GeneDx. Furthermore, R90X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Several other nonsense variants in the BAG3 gene have been reported in Human Gene Mutation Database in association with DCM (Stenson et al., 2014). Moreover, R90X is not observed in large population cohorts (Lek et al., 2016). In summary, R90X in the BAG3 gene is interpreted as a pathogenic variant.
Invitae RCV000460767 SCV000550836 pathogenic Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 90 (p.Arg90*) of 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 particular variant has been reported in the literature in an individual affected with idiopathic dilated cardiomyopathy (PMID: 21353195). For these reasons, this variant has been classified as Pathogenic.

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