Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
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). |