Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002436981 | SCV002744975 | uncertain significance | Cardiovascular phenotype | 2024-10-08 | criteria provided, single submitter | clinical testing | The c.2708A>C (p.E903A) alteration is located in exon 17 (coding exon 17) of the SOS1 gene. This alteration results from a A to C substitution at nucleotide position 2708, causing the glutamic acid (E) at amino acid position 903 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469364 | SCV002766299 | uncertain significance | not specified | 2022-11-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002537613 | SCV003468067 | uncertain significance | RASopathy | 2023-04-01 | 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) 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. ClinVar contains an entry for this variant (Variation ID: 981586). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 903 of the SOS1 protein (p.Glu903Ala). |
Service de Génétique Moléculaire, |
RCV001261112 | SCV001438519 | uncertain significance | Noonan syndrome | no assertion criteria provided | clinical testing |