Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002795494 | SCV003030470 | uncertain significance | RASopathy | 2023-07-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1989096). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 838 of the SOS1 protein (p.Cys838Arg). 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. |
Ambry Genetics | RCV004673722 | SCV005170303 | uncertain significance | Cardiovascular phenotype | 2024-06-21 | criteria provided, single submitter | clinical testing | The p.C838R variant (also known as c.2512T>C), located in coding exon 16 of the SOS1 gene, results from a T to C substitution at nucleotide position 2512. The cysteine at codon 838 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |