ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) (rs730882068)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386018 SCV001586098 pathogenic Paroxysmal kinesigenic dyskinesia 2020-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu173*) 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 in individual(s) with PRRT2-related conditions (PMID: 22832103). It has also been observed to segregate with disease in related individuals. This variant is also known as c.516_517insT. ClinVar contains an entry for this variant (Variation ID: 31175). 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 RCV000024173 SCV000045464 pathogenic Infantile convulsions and choreoathetosis 2012-01-26 no assertion criteria provided literature only

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