ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) (rs587783123)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144794 SCV000191018 pathogenic not provided 2013-02-26 criteria provided, single submitter clinical testing The c.2360_2363delAGAA mutation in the CDKL5 gene causes a frameshift starting with codon Lysine 787, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Lys787ArgfsX15. 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,EPILEPSY panel(s).

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