Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |