ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.206dup (p.Ser70fs) (rs1554876984)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478205 SCV000565985 pathogenic not provided 2015-04-06 criteria provided, single submitter clinical testing Although the c.206dupC variant in the BAG3 gene has not been reported to our knowledge, this variant isexpected to result in either an abnormal, truncated protein product or loss of protein from this allele throughnonsense-mediated mRNA decay. Other frameshift variants in the BAG3 gene have been reported in HGMDin association with DCM (Stenson P et al., 2014). Furthermore, the c.206dupC duplication was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. In summary, c.206dupC in the BAG3 gene is interpreted as a pathogenic variant.

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