ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.404-1G>A

dbSNP: rs267608474
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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 RCV004725004 SCV005335131 pathogenic CDKL5 disorder 2024-09-05 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). The computational splicing predictor SpliceAI supports a splicing alteration (score of >0.2 - AL: 0.98, DL: 0.86) (PP3). This variant is absent from gnomAD (PM2_Supporting). Has been observed in at least 2 individuals with phenotypes consistent with CDKL5 disorder (PS4_Supporting, PMID: 16611748, PMID: 21309761).
RettBASE RCV000170041 SCV000222349 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Predicted to cause skipping of exon 7

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