ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) (rs77838305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554439 SCV000645431 pathogenic Paroxysmal kinesigenic dyskinesia 2020-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg217*) 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 reported in several individuals and families affected with paroxysmal kinesigenic dyskinesia, and infantile convulsions and paroxysmal choreoathetosis (PMID: 22744660, 22902309, 22464846, 22752065, 23363396, 28074849). Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22832103). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001332953 SCV001525399 pathogenic Infantile convulsions and choreoathetosis 2020-01-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001545693 SCV001765073 pathogenic not provided 2020-04-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29655203, 29285950, 22752065, 28074849, 25340963, 24370076, 23363396, 22744660, 23551744, 22902309, 22464846)

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