Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008991 | SCV001168800 | pathogenic | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | The c.383delA variant in the CDKL5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.383delA variant causes a frameshift starting with codon Lysine 128, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Lys128ArgfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.383delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.383delA as a pathogenic variant. |