Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001308714 | SCV001498183 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 81 of the RASA1 protein (p.Leu81Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010983). 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. |
| Ambry Genetics | RCV003284166 | SCV004007111 | uncertain significance | Cardiovascular phenotype | 2023-03-24 | criteria provided, single submitter | clinical testing | The p.L81V variant (also known as c.241C>G), located in coding exon 1 of the RASA1 gene, results from a C to G substitution at nucleotide position 241. The leucine at codon 81 is replaced by valine, 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. |