ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg) (rs1554955501)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578867 SCV000681189 uncertain significance not provided 2017-12-08 criteria provided, single submitter clinical testing The Q713R variant in the USH1C gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q713R variant is not observed in large population cohorts (Lek et al., 2016). The Q713R 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 that this variant does not alter protein structure/function. We interpret Q713R as a variant of uncertain significance.

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