ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.808dup (p.Leu270fs) (rs587783112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144783 SCV000191007 pathogenic not provided 2013-01-29 criteria provided, single submitter clinical testing The c.808_809insC (aka c.808dupC) mutation in the CDKL5 gene causes a frameshift starting with codon Leucine 270, changes this amino acid to a Proline residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Leu270ProfsX3. 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, other frameshift mutations have been reported in the CDKL5 gene in association with epilepsy. The variant is found in EPILEPSY panel(s).

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