Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268593 | SCV001447626 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880168 | SCV002130941 | pathogenic | Developmental and epileptic encephalopathy, 12 | 2021-09-03 | 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: 987276). This premature translational stop signal has been observed in individual(s) with microcephaly with early-onset seizures (PMID: 31041400). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile22Hisfs*37) 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). |