ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.258C>G (p.Tyr86Ter) (rs1554876999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599448 SCV000710650 likely pathogenic not provided 2018-02-26 criteria provided, single submitter clinical testing The Y86X variant in the BAG3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y86X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y86X as a likely pathogenic variant.
Invitae RCV001245335 SCV001418617 pathogenic Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2019-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr86*) 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. ClinVar contains an entry for this variant (Variation ID: 504333). 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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