Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001060760 | SCV001225470 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2021-10-11 | 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. 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"). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with arginine at codon 85 of the RASA1 protein (p.Gly85Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. |
| Ambry Genetics | RCV003283937 | SCV004007122 | uncertain significance | Cardiovascular phenotype | 2023-05-18 | criteria provided, single submitter | clinical testing | The p.G85R variant (also known as c.253G>A), located in coding exon 1 of the RASA1 gene, results from a G to A substitution at nucleotide position 253. The glycine at codon 85 is replaced by arginine, an amino acid with dissimilar 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. |