ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)

dbSNP: rs387907126
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431690 SCV000516081 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing The R240X nonsense variant in the PRRT2 gene has been reported previously in association with paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), PKD with migraines without aura, and benign familial infantile seizures (BFIS) (Lee et al., 2012; Cloarec et al., 2012; Labate et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.
Invitae RCV000817890 SCV000958475 pathogenic Episodic kinesigenic dyskinesia 2023-01-18 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 31174). This premature translational stop signal has been observed in individuals with paroxysmal kinesigenic dyskinesia or benign familial infantile seizures (PMID: 22832103, 23077017, 23352743). It has also been observed to segregate with disease in related individuals. This sequence change creates a premature translational stop signal (p.Arg240*) in the PRRT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660).
Mendelics RCV002247392 SCV002518917 pathogenic Episodic kinesigenic dyskinesia 1 2022-05-04 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288519 SCV002579241 pathogenic Seizures, benign familial infantile, 2 2021-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000431690 SCV004701572 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing PRRT2: PVS1, PP1:Strong, PM2, PS4:Moderate
OMIM RCV000024172 SCV000045463 pathogenic Infantile convulsions and choreoathetosis 2012-01-26 no assertion criteria provided literature only

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