ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile)

gnomAD frequency: 0.00001  dbSNP: rs755440222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233441 SCV000835882 uncertain significance Episodic kinesigenic dyskinesia 2018-05-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 162 of the PRRT2 protein (p.Thr162Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs755440222, ExAC 0.01%). This variant has not been reported in the literature in individuals with PRRT2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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