Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437771 | SCV000535752 | likely pathogenic | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | The A289G variant in the UBE3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, a missense variant at the same residue (A289V) has been identified as apparently de novo in a patient previously tested at GeneDx, supporting the functional importance of this region of the protein. The A289G variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the A289G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. We interpret A289G as a likely pathogenic variant. |