Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640485 | SCV000762077 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2018-03-19 | criteria provided, single submitter | clinical testing | Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to be de novo in individuals affected with atypical Rett Syndrom (PMID: 27734276). This variant is also known as c.197_198delCT in the literature. This sequence change creates a premature translational stop signal (p.Leu67Glnfs*23) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). |