Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699393 | SCV000828100 | pathogenic | Episodic kinesigenic dyskinesia | 2020-10-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). This variant has not been reported in the literature in individuals with PRRT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 576805). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln221*) in the PRRT2 gene. It is expected to result in an absent or disrupted protein product. |