Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001371328 | SCV001567887 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2023-01-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1061699). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. This variant is present in population databases (rs770469001, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 391 of the RASA1 protein (p.Arg391Gln). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. |
| Ambry Genetics | RCV002329393 | SCV002627487 | uncertain significance | Cardiovascular phenotype | 2022-03-09 | criteria provided, single submitter | clinical testing | The p.R391Q variant (also known as c.1172G>A), located in coding exon 8 of the RASA1 gene, results from a G to A substitution at nucleotide position 1172. The arginine at codon 391 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |