ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) (rs267608453)

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Total submissions: 2
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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
RettBASE RCV000133365 SCV000188379 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation

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