ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) (rs751035557)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658141 SCV000779912 likely pathogenic not provided 2018-12-17 criteria provided, single submitter clinical testing The C744Y variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The C744Y variant is observed in 1/9,826 (0.0102%) alleles from individuals of Ashkenazi Jewish background and 1/245,546 global alleles in large population cohorts (Lek et al., 2016). The C744Y 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret C744Y as a likely pathogenic variant.

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