ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) (rs387907125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067788 SCV001232868 pathogenic Paroxysmal kinesigenic dyskinesia 2019-05-01 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 317 of the PRRT2 protein (p.Ser317Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with infantile convulsions and choreoathetosis syndrome in a family (PMID: 22243967). ClinVar contains an entry for this variant (Variation ID: 31172). 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"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024170 SCV000045461 pathogenic Infantile convulsions and choreoathetosis 2012-01-13 no assertion criteria provided literature only

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