ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.907_908insCC (p.Leu303fs)

dbSNP: rs1602282705
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 RCV001008405 SCV001168174 pathogenic not provided 2018-11-14 criteria provided, single submitter clinical testing The c.907_908insCC pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Leucine 303, changes this amino acid to a Proline residue and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Leu303ProfsX48. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.907_908insCC variant is not observed in large population cohorts (Lek et al., 2016). This variant is considered a pathogenic variant.

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.