ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002895343 SCV003244507 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr239Serfs*29) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 2038957). For these reasons, this variant has been classified as Pathogenic.

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