ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3581C>T (p.Pro1194Leu) (rs145114751)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658087 SCV000779858 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The P1194L variant in the USH2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1194L variant is observed in 58/276686 (0.021%) alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). The P1194L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P1194L as a variant of uncertain significance.

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