Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001322056 | SCV001512909 | uncertain significance | RASopathy | 2023-02-27 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SOS1 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1022179). 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 serine, which is neutral and polar, at codon 1223 of the SOS1 protein (p.Pro1223Ser). |
| Ambry Genetics | RCV004671340 | SCV005170304 | uncertain significance | Cardiovascular phenotype | 2024-06-07 | criteria provided, single submitter | clinical testing | The c.3667C>T (p.P1223S) alteration is located in exon 23 (coding exon 23) of the SOS1 gene. This alteration results from a C to T substitution at nucleotide position 3667, causing the proline (P) at amino acid position 1223 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |