ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)

gnomAD frequency: 0.00005  dbSNP: rs748459878
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV003165363 SCV003853564 benign CDKL5 disorder 2023-02-20 reviewed by expert panel curation The allele frequency of the p.Asn748Ser variant in CDKL5 is 0.03683% in African/African American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Asn748Ser variant is observed in at least 1 unaffected individual (PMID: 29264392) (BS2_supporting). In summary, the p.Asn748Ser variant in CDKL5 is classified as Benign based on the ACMG/AMP criteria (BA1, BA2_supporting).
Eurofins Ntd Llc (ga) RCV000174879 SCV000226272 uncertain significance not provided 2014-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764870 SCV000896026 uncertain significance Developmental and epileptic encephalopathy, 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001512607 SCV001720052 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000174879 SCV001768120 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29264392)

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.