ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) (rs1039517349)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760395 SCV000890268 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing The E809X variant in the CDH23 gene has been reported previously in an individual with Usher syndrome type I who also had an additional disease-causing USH2A variant (Bujakowska et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E809X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E809X as a pathogenic variant.

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