Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513223 | SCV003443512 | pathogenic | Episodic kinesigenic dyskinesia | 2022-10-13 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with paroxysmal kinesigenic dyskinesia (PMID: 22101681). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser172Argfs*3) 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). ClinVar contains an entry for this variant (Variation ID: 31169). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000024167 | SCV000045458 | pathogenic | Episodic kinesigenic dyskinesia 1 | 2011-11-20 | no assertion criteria provided | literature only |