ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003389297 SCV004101331 pathogenic Infantile convulsions and choreoathetosis 2023-06-14 criteria provided, single submitter clinical testing The PRRT2 c.284C>A (p.Ser95Ter) nonsense variant results in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. A different nucleotide change at the same position, c.284C>G, resulting in the same stop-gain consequence (p.Ser95Ter), was reported in the literature in an individual with seizures, who inherited this variant from their mother (PMID: 34041212). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.284C>A (p.Ser95Ter) variant is classified as pathogenic for PRRT2-associated paroxysmal movement disorders.
Institute of Human Genetics, University of Leipzig Medical Center RCV004763673 SCV005368364 pathogenic Seizures, benign familial infantile, 2 2024-07-22 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2

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