Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200407 | SCV001371357 | pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001309110 | SCV001498595 | pathogenic | Episodic kinesigenic dyskinesia | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the PRRT2 gene. It does not directly change the encoded amino acid sequence of the PRRT2 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with PRRT2-related conditions (PMID: 26935445; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 932548). Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 26935445). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV002051919 | SCV002318590 | uncertain significance | Infantile convulsions and choreoathetosis | 2022-03-22 | criteria provided, single submitter | clinical testing | This variant has been reported as pathogenic (ClinVar ID: VCV000932548, PMID: 26936445). Experimental studies have shown that this variant results in aberrant splicing and premature stop codon (PMID: 26936445). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |
Baylor Genetics | RCV003333135 | SCV004040970 | pathogenic | Seizures, benign familial infantile, 2 | 2023-08-30 | criteria provided, single submitter | clinical testing |