ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) (rs1554875409)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000615326 SCV000712370 likely pathogenic Primary dilated cardiomyopathy 2016-07-18 criteria provided, single submitter clinical testing The p.Trp26X variant in BAG3 has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 26, which is predicted to lead to a tr uncated or absent protein. Loss-of-function variants in BAG3 are associated with DCM (Knezevic, 2015). In summary, although additional studies are required to f ully establish its clinical significance, the p.Trp26X variant is likely pathoge nic.
GeneDx RCV001008646 SCV001168421 pathogenic not provided 2019-04-23 criteria provided, single submitter clinical testing Identified in a patient with DCM and several affected family members in the published literature (Janin et al., 2017) as well as in several unrelated patients with DCM and their relatives referred for cardiogenetic testing at GeneDx.; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as likely pathogenic by a clinical laboratory (Clinvar Variant ID# 505229; Landrum et al., 2016)

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