ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)

dbSNP: rs62643614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694825 SCV000823287 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2018-01-15 criteria provided, single submitter clinical testing This variant has been reported to be de novo in an individual affected with an early onset seizure variant of Rett syndrome (PMID: 15917271). ClinVar contains an entry for this variant (Variation ID: 143801). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg781Serfs*3) 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). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000133348 SCV000188358 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation

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