ClinVar Miner

Submissions for variant NM_015488.5(PNKD):c.20C>T (p.Ala7Val) (rs121434512)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050396 SCV001214500 pathogenic Paroxysmal non-kinesigenic dyskinesia 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 7 of the PNKD protein (p.Ala7Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with paroxysmal non-kinesigenic dyskinesia or paroxysmal dystonic choreoathetosis (PMID: 15262732, 25107857, 22967746, 15496428). It has also been observed to segregate with disease in related individuals. This variant is also known as 66C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 1893). This variant has been reported to have conflicting or insufficient data to determine the effect on PNKD protein function (PMID: 21487022, 19124534). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001970 SCV000022128 pathogenic Paroxysmal nonkinesigenic dyskinesia 1 2005-04-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000001970 SCV000891541 uncertain significance Paroxysmal nonkinesigenic dyskinesia 1 2017-12-30 no assertion criteria provided curation
GeneReviews RCV000001970 SCV000998892 pathogenic Paroxysmal nonkinesigenic dyskinesia 1 2019-03-27 no assertion criteria provided literature only

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