Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144836 | SCV000191075 | pathogenic | not provided | 2012-04-12 | criteria provided, single submitter | clinical testing | The Gln866Stop nonsense mutation in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s). |
Genetic Services Laboratory, |
RCV000145534 | SCV000192623 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2012-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515946 | SCV003461906 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln866*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 156691). This premature translational stop signal has been observed in individual(s) with CDKL5-related conditions (PMID: 29655203). This variant is not present in population databases (gnomAD no frequency). |