ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2203_2204AG[1] (p.Arg735fs) (rs587783120)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144791 SCV000191015 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing The c.2205_2206delAG pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Arginine 735, changes this amino acid to a Serine residue and creates a premature Stop codon at position 28 of the new reading frame, denoted p.R735SfsX28. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay. Furthermore, the c.2205_2206delAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of c.2205_2206delAG is consistent with the diagnosis of a CDKL5-related disorder.

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