Total submissions: 2
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, |
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. |