ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs)

dbSNP: rs1925420814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089715 SCV001245200 pathogenic Developmental and epileptic encephalopathy, 2 2020-02-14 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV005053969 SCV005687627 pathogenic CDKL5 disorder 2024-12-24 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, PMID: 37193389). This variant is absent from gnomAD (PM2_Supporting).

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