Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008169 | SCV001167933 | pathogenic | not provided | 2018-01-31 | criteria provided, single submitter | clinical testing | The c.663dupT pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Threonine 222, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Thr222TyrfsX12. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.663dupT variant is not observed in large population cohorts (Lek et al., 2016). 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. |