Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521720 | SCV000621925 | uncertain significance | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PRRT2 gene. The M293R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M293R variant is not observed in large population cohorts (Lek et al., 2016). The M293R 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. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts thisvariant is probably damaging to the protein structure/function. Based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |