ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) (rs587783087)

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
GeneDx RCV000144749 SCV000190962 likely pathogenic not provided 2014-12-29 criteria provided, single submitter clinical testing A novel L201P variant that is likely pathogenic has been identified in the CDKL5 gene. The L201P variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. It is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts that L201P is probably damaging to the protein structure/function. Missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with CDKL5-related disorders (Stenson et al., 2014). In addition, L201P has been identified previously as a de novo variant in an individual tested for epilepsy disorders at GeneDx. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Mendelics RCV000990480 SCV001141482 likely pathogenic Early infantile epileptic encephalopathy 2 2019-05-28 criteria provided, single submitter clinical testing

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.