ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)

dbSNP: rs587783158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144836 SCV000191075 pathogenic not provided 2012-04-12 criteria provided, single submitter clinical testing The Gln866Stop nonsense mutation in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).
Genetic Services Laboratory, University of Chicago RCV000145534 SCV000192623 pathogenic Developmental and epileptic encephalopathy, 2 2012-11-16 criteria provided, single submitter clinical testing
Invitae RCV002515946 SCV003461906 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln866*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 156691). This premature translational stop signal has been observed in individual(s) with CDKL5-related conditions (PMID: 29655203). This variant is not present in population databases (gnomAD no frequency).

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