ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs) (rs587783126)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144797 SCV000191021 pathogenic not provided 2013-07-16 criteria provided, single submitter clinical testing The c.2608_2609insT (aka c.2608dupT) mutation in the CDKL5 gene causes a frameshift starting with codon Serine 870, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Ser870PhefsX40. 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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