Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486378 | SCV000572946 | uncertain significance | not provided | 2017-02-13 | criteria provided, single submitter | clinical testing | The A743G variant in the SOS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A743G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A743G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. While this substitution occurs at a position that is conserved in mammals, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A743G as a variant of uncertain significance. |