ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter)

dbSNP: rs1569218019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679944 SCV000807378 pathogenic Developmental and epileptic encephalopathy, 2 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 2-year-old female with global delays, regression, hypotonia, epilepsy, choreoathetoid movements, acquired microcephaly.
Labcorp Genetics (formerly Invitae), Labcorp RCV001229805 SCV001402262 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560971). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln290*) 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).

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