ClinVar Miner

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

dbSNP: rs267608433
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Total submissions: 7
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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 Developmental and epileptic encephalopathy, 2 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV001068312 SCV001233417 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 143779). This premature translational stop signal has been observed in individuals with CDKL5-related disease (PMID: 15689447, 19780792). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100).
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000170008 SCV002033784 pathogenic Developmental and epileptic encephalopathy, 2 2021-01-14 criteria provided, single submitter clinical testing
OMIM RCV000170008 SCV000032487 pathogenic Developmental and 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 Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation
Pediatric Department, Xiangya Hospital, Central South University RCV000170008 SCV004032229 pathogenic Developmental and epileptic encephalopathy, 2 no assertion criteria provided research

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