ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.248del (p.Gly83fs) (rs587783109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144780 SCV000191004 pathogenic not provided 2013-08-02 criteria provided, single submitter clinical testing The c.248delG mutation in the CDKL5 gene causes a frameshift starting with codon Glycine 83, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Gly83GlufsX30. 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 EPILEPSY panel(s).

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