ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)

dbSNP: rs1900057283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092087 SCV001248445 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV003594091 SCV004297712 pathogenic Episodic kinesigenic dyskinesia 2023-03-08 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with paroxysmal kinesigenic dyskinesia (PMID: 26384010). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 871888). This variant is also known as c.insT27 (p.Ser9*). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu10*) 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).

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