ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) (rs1569220925)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698605 SCV000827278 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2018-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr716Thrfs*68) 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 been observed in an individual affected with a CDKL5-related condition (Invitae). 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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