Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000515468 | SCV000606838 | pathogenic | Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1 | criteria provided, single submitter | research | ||
Invitae | RCV001857289 | SCV002192466 | uncertain significance | Episodic kinesigenic dyskinesia | 2021-05-31 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with PRRT2-related conditions (PMID: 29167286). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 440911). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 320 of the PRRT2 protein (p.Ala320Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
Mendelics | RCV002248745 | SCV002518923 | pathogenic | Episodic kinesigenic dyskinesia 1 | 2022-05-04 | criteria provided, single submitter | clinical testing |