ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs)

dbSNP: rs1926298521
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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 RCV001062137 SCV001226916 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2019-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser586Cysfs*24) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). This variant has not been reported in the literature in individuals with CDKL5-related conditions. This variant is not present in population databases (ExAC no frequency).

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