ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)

gnomAD frequency: 0.00004  dbSNP: rs372629988
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003169069 SCV003853567 benign CDKL5 disorder 2023-03-17 reviewed by expert panel curation The allele frequency of the p.Glu590Lys variant in CDKL5 is 0.015% in Latino sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Additionally, the p.Glu590Lys variant is observed in at least 14 unaffected individuals (internal database - GeneDx) (BS2) and at least 4 patients with an alternate molecular basis of disease (internal database - Invitae, internal database - GeneDx) (BP5_strong). In summary, the p.Glu590Lys variant in CDKL5 is classified as Benign for CDKL5-associated disorder based on the ACMG/AMP criteria (BS1, BS2, BP5_Strong).
GeneDx RCV000840161 SCV000982079 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Invitae RCV001229301 SCV001401743 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-01-30 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.