ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.427dup (p.Ile143fs) (rs1555949752)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497721 SCV000590313 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing The c.427dupA pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Isoleucine 143, changes this amino acid to a Asparagine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.I143NfsX5. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.427dupA 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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