ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs)

dbSNP: rs267608654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764876 SCV004571509 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-04-06 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of CDKL5-related conditions (PMID: 18266744, 25951140). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 143800). This variant is also known as 2323_2324delGA. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys776Alafs*24) 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).
RettBASE RCV000133347 SCV000188357 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Bahi-Buisson et al 2008 showed mislocalisation of protein

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