Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000278799 | SCV000329741 | pathogenic | not provided | 2015-12-29 | criteria provided, single submitter | clinical testing | The c.323_324delCA pathogenic variant in the PRRT2 gene has been reported previously in association with paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy (Yang et al., 2014; Seong et al., 2014). The deletion causes a frameshift starting with codon Threonine 108, changes this amino acid to a Serine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Thr108SerfsX25. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Ce |
RCV000278799 | SCV001150886 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000278799 | SCV001475994 | pathogenic | not provided | 2019-12-23 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
Invitae | RCV001386017 | SCV001586097 | pathogenic | Episodic kinesigenic dyskinesia | 2022-07-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280022). This premature translational stop signal has been observed in individual(s) with benign familial infantile epilepsy (PMID: 29215089). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr108Serfs*25) 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). |