Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000693439 | SCV000821309 | uncertain significance | Noonan syndrome | 2023-06-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 572125). 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 tolerated. 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. This variant has not been reported in the literature in individuals affected with RRAS-related conditions. This variant is present in population databases (rs766259420, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 113 of the RRAS protein (p.Arg113Gln). |
| Ambry Genetics | RCV002458241 | SCV002618253 | uncertain significance | Inborn genetic diseases | 2022-01-10 | criteria provided, single submitter | clinical testing | The p.R113Q variant (also known as c.338G>A), located in coding exon 3 of the RRAS gene, results from a G to A substitution at nucleotide position 338. The arginine at codon 113 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |