ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)

dbSNP: rs1555952052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535244 SCV000639464 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2019-07-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln507*) 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 disease. ClinVar contains an entry for this variant (Variation ID: 464809). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.
Pediatric Department, Xiangya Hospital, Central South University RCV003326138 SCV004032230 pathogenic Developmental and epileptic encephalopathy, 2 no assertion criteria provided research

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