ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2022del (p.Phe675fs)

dbSNP: rs1060501860
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
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.

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.