ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) (rs62643614)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694825 SCV000823287 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2018-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg781Serfs*3) 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). This variant has been reported to be de novo in an individual affected with an early onset seizure variant of Rett syndrome (PMID: 15917271). ClinVar contains an entry for this variant (Variation ID: 143801). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000133348 SCV000188358 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.