Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001950102 | SCV002205639 | uncertain significance | RASopathy | 2023-07-28 | 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 expected to disrupt SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 1429499). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is present in population databases (rs139859866, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 790 of the SOS1 protein (p.Leu790Ser). |
Ambry Genetics | RCV002442890 | SCV002735150 | uncertain significance | Cardiovascular phenotype | 2021-11-22 | criteria provided, single submitter | clinical testing | The p.L790S variant (also known as c.2369T>C), located in coding exon 14 of the SOS1 gene, results from a T to C substitution at nucleotide position 2369. The leucine at codon 790 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV002468360 | SCV002763308 | uncertain significance | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002468359 | SCV002763309 | uncertain significance | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002484618 | SCV002786189 | uncertain significance | Fibromatosis, gingival, 1; Noonan syndrome 4 | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994359 | SCV004812945 | uncertain significance | not specified | 2024-02-04 | criteria provided, single submitter | clinical testing |