ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr)

gnomAD frequency: 0.00003  dbSNP: rs754794125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051614 SCV001215780 uncertain significance Episodic kinesigenic dyskinesia 2019-01-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs754794125, ExAC 0.02%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRRT2-related conditions. This sequence change replaces alanine with threonine at codon 289 of the PRRT2 protein (p.Ala289Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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