ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.20C>A (p.Ser7Ter) (rs1473083093)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760907 SCV000890803 likely pathogenic not provided 2019-01-02 criteria provided, single submitter clinical testing The S7X likely pathogenic variant in the BAG3 gene has not been reported as a pathogenic or benign to our knowledge. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the BAG3 gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the S7X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, S7X in the BAG3 gene is interpreted as a likely pathogenic variant.

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