ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) (rs587783111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144782 SCV000191006 pathogenic not provided 2013-03-18 criteria provided, single submitter clinical testing The c.549_552delACTT mutation in the CDKL5 gene causes a frameshift starting with codon Leucine 184, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 43 of the new reading frame, denoted p.Leu184AlafsX43. 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 CDKL5 in association with epilepsy. The variant is found in INFANT-EPI panel(s).

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