Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008452 | SCV001168223 | likely pathogenic | not provided | 2023-01-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 92 amino acids are replaced with 34 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22508754) |
Invitae | RCV001860590 | SCV002196270 | pathogenic | Developmental and epileptic encephalopathy, 12 | 2023-09-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser430Profs*35) in the PNKP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PNKP are known to be pathogenic (PMID: 20118933, 25728773). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with PNKP-related conditions. ClinVar contains an entry for this variant (Variation ID: 817332). For these reasons, this variant has been classified as Pathogenic. |