ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.768dup (p.Ser257fs) (rs1131691926)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493333 SCV000583157 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing The c.768dupG pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Serine 257, changes this amino acid to a Valine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser257ValfsX12. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a CDKL5-related disorder in this individual.

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