Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385428 | SCV001585265 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2020-06-28 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). This variant has not been reported in the literature in individuals with CDKL5-related conditions. This sequence change creates a premature translational stop signal (p.Leu353Argfs*6) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. |