ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) (rs727504111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644952 SCV000766678 uncertain significance Episodic kinesigenic dyskinesia 1 2017-11-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 306 of the PRRT2 protein (p.Ala306Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Different missense variants have been reported at this codon in individuals affected with benign familial infantile seizures (PMID: 23077026) and infantile convulsions with paroxysmal kinesigenic dyskinesia (PMID: 23063574). The clinical significance of these findings 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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