ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)

gnomAD frequency: 0.00001  dbSNP: rs1301400509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000515468 SCV000606838 pathogenic Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1 criteria provided, single submitter research
Invitae RCV001857289 SCV002192466 uncertain significance Episodic kinesigenic dyskinesia 2021-05-31 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with PRRT2-related conditions (PMID: 29167286). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 440911). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 320 of the PRRT2 protein (p.Ala320Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Mendelics RCV002248745 SCV002518923 pathogenic Episodic kinesigenic dyskinesia 1 2022-05-04 criteria provided, single submitter clinical testing

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