Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002439253 | SCV002747858 | uncertain significance | Cardiovascular phenotype | 2024-03-01 | criteria provided, single submitter | clinical testing | The c.2741T>A (p.L914Q) alteration is located in exon 17 (coding exon 17) of the SOS2 gene. This alteration results from a T to A substitution at nucleotide position 2741, causing the leucine (L) at amino acid position 914 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003591962 | SCV004354493 | uncertain significance | Noonan syndrome 9 | 2023-07-19 | 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt SOS2 protein function. ClinVar contains an entry for this variant (Variation ID: 1795443). This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (rs376313150, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 914 of the SOS2 protein (p.Leu914Gln). |