ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)

gnomAD frequency: 0.00001  dbSNP: rs727503847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003235071 SCV003933686 likely benign CDKL5 disorder 2023-04-14 reviewed by expert panel curation The p.Ser796= variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser796= variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database)(BP5). In summary, the p.Ser796= variant in CDKL5 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).
Eurofins Ntd Llc (ga) RCV000723893 SCV000202393 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000152959 SCV000714536 benign not specified 2015-04-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001464840 SCV001668815 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-10-03 criteria provided, single submitter clinical testing

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