Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001207704 | SCV001379069 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2019-07-15 | 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 with RASA1-related conditions. This variant is present in population databases (rs753769946, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 283 of the RASA1 protein (p.Arg283His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
| Ambry Genetics | RCV003163571 | SCV003866441 | uncertain significance | Cardiovascular phenotype | 2022-11-07 | criteria provided, single submitter | clinical testing | The p.R283H variant (also known as c.848G>A), located in coding exon 4 of the RASA1 gene, results from a G to A substitution at nucleotide position 848. The arginine at codon 283 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |