Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003764876 | SCV004571509 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-04-06 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of CDKL5-related conditions (PMID: 18266744, 25951140). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 143800). This variant is also known as 2323_2324delGA. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys776Alafs*24) 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 |
RCV000133347 | SCV000188357 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Bahi-Buisson et al 2008 showed mislocalisation of protein |