ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1795dup (p.Thr599fs) (rs587783116)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144787 SCV000191011 pathogenic not provided 2012-12-19 criteria provided, single submitter clinical testing The c.1795_1796insA (aka c.1795dupA) mutation in the CDKL5 gene causes a frameshift starting with codon Threonine 599, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Thr599AsnfsX12. 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 in CDKL5 have been reported in patients with epilepsy. The variant is found in INFANT-EPI panel(s).

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