ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs) (rs587783117)

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
GeneDx RCV000144788 SCV000191012 pathogenic not provided 2012-11-14 criteria provided, single submitter clinical testing The c.1886_1887insTT (aka c.1885_1886dupTT) mutation in the CDKL5 gene causes a frameshift starting with codon Leucine 629, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu629PhefsX2. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, many other frameshift mutations in CDKL5 have been published. The variant is found in INFANT-EPI panel(s).

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.