ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) (rs587783115)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144786 SCV000191010 pathogenic not provided 2014-03-28 criteria provided, single submitter clinical testing The c.1671_1672insA (aka c.1671dupA) mutation in the CDKL5 gene has been reported previously in association with CDKL5-related disorders (Fehr et al., 2013). The duplication causes a frameshift starting with codon Arginine 558, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Arg558ThrfsX9. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s).

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