ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)

dbSNP: rs267608453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598592 SCV000709792 pathogenic not provided 2014-10-28 criteria provided, single submitter clinical testing The Q118X nonsense variant in the CDKL5 gene has been reported previously in a female patient with clinical features consistent with atypical Rett syndrome (Bahi-Buisson et al., 2008). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of Q118X is consistent with the diagnosis of a CDKL5-related disorder
Centre for Population Genomics, CPG RCV004724871 SCV005335314 pathogenic CDKL5 disorder 2024-07-16 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, PMID: 18790821). This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133365 SCV000188379 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation

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