ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)

dbSNP: rs1555950468
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
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585875 SCV000693781 likely pathogenic Developmental and epileptic encephalopathy, 2 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV003767322 SCV004579719 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-04-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDKL5 protein function. ClinVar contains an entry for this variant (Variation ID: 495246). This missense change has been observed in individual(s) with clinical features of CDKL5-related conditions (PMID: 31780880). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 206 of the CDKL5 protein (p.Asp206Tyr).

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.