ClinVar Miner

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

dbSNP: rs62643614
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Total submissions: 3
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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 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 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.
Centre for Population Genomics, CPG RCV005245483 SCV005894723 pathogenic CDKL5 disorder 2024-09-16 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant has been identified as a de novo occurrence in an individual with CDKL5 disorder without confirmation of paternity and maternity (PM6). This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133348 SCV000188358 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation

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