ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter)

dbSNP: rs17857094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV004724997 SCV005335344 pathogenic CDKL5 disorder 2024-08-21 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). Has been observed in at least 2 individuals with phenotypes consistent with CDKL5 disorder (PS4_Supporting).PMID: 23647072, 25951140 This variant is absent from gnomAD V4 (PM2_Supporting).
RettBASE RCV000170023 SCV000222330 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Truncation causing loss of C-terminus including potential nuclear export signal, also not in 1000 genomes or ESP

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