Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640504 | SCV000762096 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2017-10-10 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 4-7 of the CDKL5 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exons4-7 has not been reported in the literature in individuals with CDKL5-related disease. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic. |