ClinVar Miner

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

dbSNP: 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 Episodic kinesigenic dyskinesia 2020-12-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects PRRT2 protein function (PMID: 31124310). This variant has been observed in individual(s) with infantile convulsions and choreoathetosis syndrome (PMID: 22243967). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 31172). This variant is not present in population databases (ExAC no frequency). 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.
OMIM RCV000024170 SCV000045461 pathogenic Infantile convulsions and choreoathetosis 2012-01-13 no assertion criteria provided literature only

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