ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)

dbSNP: rs1057518203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413039 SCV000491649 pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000807507 SCV000947563 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2018-08-20 criteria provided, single submitter clinical testing 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 disease. ClinVar contains an entry for this variant (Variation ID: 373086). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln336*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product.

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