ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1345_1363del (p.Glu449fs) (rs587783113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144784 SCV000191008 pathogenic not provided 2012-12-07 criteria provided, single submitter clinical testing The c.1345_1363del19 mutation in the CDKL5 gene causes a frameshift starting with codon Glutamic acid 449, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 38 of the new reading frame, denoted p.Glu449LeufsX38. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, many other frameshift mutations in CDKL5 have been published. The variant is found in EPILEPSY panel(s).

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