Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464248 | SCV000547679 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2016-11-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 21160487,  21770923). This sequence change deletes 1 nucleotide from exon 13 of the CDKL5 mRNA (c.2022delC), causing a frameshift at codon 675. This creates a premature translational stop signal (p.Phe675Serfs*109) and is expected to result in an absent or disrupted protein product. |