Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008585 | SCV001168358 | likely pathogenic | not provided | 2019-02-19 | criteria provided, single submitter | clinical testing | The c.988_989delCC variant in the CYBB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.988_989delCC variant causes a frameshift starting with codon Proline 330, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Pro330LysfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.988_989delCC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.988_989delCC as a likely pathogenic variant. |