ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) (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 Early infantile 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.
Invitae RCV001229805 SCV001402262 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-07-26 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 560971). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.

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