Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521015 | SCV000621169 | likely pathogenic | not provided | 2017-09-26 | criteria provided, single submitter | clinical testing | The M162T variant in the GABRB3 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The variant is not observed in large population cohorts(Lek et al., 2016). The variant is a non-conservative amino acid substitution, which is likely to impactsecondary 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 thisvariant is probably damaging to the protein structure/function. We interpret M162T as a likelypathogenic variant. |