ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) (rs1569225454)

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 RCV000694793 SCV000823253 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-11-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CDKL5 gene (p.Pro895Glyfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the CDKL5 protein. The CDKL5 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001323289.1, and corresponds to NM_003159.2:c.2682_2683insGGAA (p.Pro895Glyfs*16) in the primary transcript. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of CDKL5-related conditions (Invitae). This variant disrupts the C-terminus of the CDKL5 protein. Other variant(s) that disrupt this region (NM_001323289.1:c.2828_2829del) have been determined to be pathogenic (PMID: 29444904). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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.