ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) (rs387907126)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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 Paroxysmal kinesigenic dyskinesia 2018-09-21 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with paroxysmal kinesigenic dyskinesia (PKD) or benign familial infantile seizures (BFIS) in several families (PMID: 22832103, 23077017, 23352743). ClinVar contains an entry for this variant (Variation ID: 31174). Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024172 SCV000045463 pathogenic Infantile convulsions and choreoathetosis 2012-01-26 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.