ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)

gnomAD frequency: 0.00026  dbSNP: rs779020826
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Total submissions: 3
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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, 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
CeGaT Center for Human Genetics Tuebingen RCV003884544 SCV004698964 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing PRRT2: PM2

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