Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186677 | SCV000240243 | likely pathogenic | not provided | 2018-10-26 | criteria provided, single submitter | clinical testing | The G259W variant in the ADSL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G259W variant is not observed in large population cohorts (Lek et al., 2016). The G259W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G259W as a likely pathogenic variant. |