ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs)

dbSNP: rs587783117
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144788 SCV000191012 pathogenic not provided 2012-11-14 criteria provided, single submitter clinical testing The c.1886_1887insTT (aka c.1885_1886dupTT) mutation in the CDKL5 gene causes a frameshift starting with codon Leucine 629, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu629PhefsX2. 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 INFANT-EPI panel(s).

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