ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2384G>A (p.Cys795Tyr) (rs776202248)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482550 SCV000574284 likely pathogenic not provided 2017-08-07 criteria provided, single submitter clinical testing The C795Y variant in the USH2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C795Y variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C795Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C795Y as a likely pathogenic variant.

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