ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs) (rs1555955237)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518908 SCV000620026 pathogenic not provided 2017-08-23 criteria provided, single submitter clinical testing The c.2593_2616del24insG pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Glutamine 865, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 37 of the new reading frame, denoted p.Gln865GlyfsX37. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.2593_2616del24insG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a CDKL5-related disorder in this individual.

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