ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)

gnomAD frequency: 0.00004  dbSNP: rs138125282
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV002281143 SCV002569950 benign CDKL5 disorder 2022-09-01 reviewed by expert panel curation The allele frequency of the p.Leu97= variant in CDKL5 is 0.011% in African 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). The p.Leu97= variant is observed in at least 2 unaffected individuals (internal database) (BS2). The silent p.Leu97= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). The p.Leu97= variant in CDKL5 has been reported apparently homozygous in an individual with infantile epileptic encephalopathy (PMID 28454995); no criteria were applied for this case. In summary, the p.Leu97= variant in CDKL5 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP7).
Invitae RCV000925502 SCV001071040 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV002225768 SCV002504358 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985112 SCV001133083 likely pathogenic Developmental and epileptic encephalopathy, 2 2019-09-26 no assertion criteria provided 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.