Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001921805 | SCV002199342 | uncertain significance | RASopathy | 2021-11-22 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1258 of the SOS1 protein (p.Pro1258Thr). |
| Ambry Genetics | RCV004671534 | SCV005170286 | uncertain significance | Cardiovascular phenotype | 2024-04-05 | criteria provided, single submitter | clinical testing | The p.P1258T variant (also known as c.3772C>A), located in coding exon 23 of the SOS1 gene, results from a C to A substitution at nucleotide position 3772. The proline at codon 1258 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |