Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468258 | SCV000541960 | uncertain significance | Episodic kinesigenic dyskinesia | 2020-09-18 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs779020826, ExAC 0.004%) but has not been reported in the literature in individuals with a PRRT2-related disease. This sequence change replaces asparagine with serine at codon 212 of the PRRT2 protein (p.Asn212Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. |
Fulgent Genetics, |
RCV000765286 | SCV000896540 | uncertain significance | Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884544 | SCV004698964 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | PRRT2: PM2 |