Description
A variant of uncertain significance has been identified in the SOS1 gene. The T549A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T549A variant is not observed in large population cohorts (Lek et al., 2016). The T549A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, missense variants in the same and in nearby residues have been reported in the Human Gene Mutation Database in individuals with Noonan syndrome (Stenson et al., 2014). However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
