ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) (rs200712760)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485043 SCV000566980 pathogenic not provided 2017-09-18 criteria provided, single submitter clinical testing The R2723X nonsense variant in the USH2A gene has been reported previously in association with USH2A-related disorders (McGee et al., 2010; Sandberg et al, 2008; Jaijo et al. 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Given the available evidence, we interpret R2723X as a pathogenic variant.

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