ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197119 SCV001367755 uncertain significance Infantile convulsions and choreoathetosis 2018-12-13 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001371068 SCV001567620 uncertain significance Paroxysmal kinesigenic dyskinesia 2020-08-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 330 of the PRRT2 protein (p.Ala330Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs757132796, ExAC 0.002%). This variant has not been reported in the literature in individuals with PRRT2-related conditions. 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: Possibly Damaging; Align-GVGD: Class C0). 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.

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