Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513189 | SCV000608908 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000513189 | SCV000621387 | likely pathogenic | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | The G358R variant in the ATP1A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G358R variant is not observed in large population cohorts (Lek et al., 2016). The G358R 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 G358R as a likely pathogenic variant. |