ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.776del (p.Gly259fs)

dbSNP: rs1900111672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036192 SCV001199543 pathogenic Episodic kinesigenic dyskinesia 2023-07-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 835335). This premature translational stop signal has been observed in individual(s) with clinical features of PRRT2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly259Valfs*54) 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). For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001255706 SCV001431574 likely pathogenic Seizure 2020-09-09 criteria provided, single submitter clinical testing Frameshift variant is absent from gnomAD. Can partially explain the phenotype.

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