ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) (rs267608433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000170008 SCV000693767 likely pathogenic Early infantile epileptic encephalopathy 2 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV001068312 SCV001233417 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu55Argfs*20) 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 several individuals affected with CDKL5-related disease (PMID: 19780792, 15689447). ClinVar contains an entry for this variant (Variation ID: 143779). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000170008 SCV000032487 pathogenic Early infantile epileptic encephalopathy 2 2005-02-01 no assertion criteria provided literature only
RettBASE RCV000133326 SCV000188335 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation
RettBASE RCV000170008 SCV000222314 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation

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