Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003765058 | SCV004571507 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-03-07 | 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: 189556). This premature translational stop signal has been observed in individual(s) with Rett syndrome (PMID: 22982301). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln459*) 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). |
Rett |
RCV000169996 | SCV000222302 | pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation |