Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001324683 | SCV001515646 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2023-03-09 | criteria provided, single submitter | clinical testing | 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 gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 341 of the RASA1 protein (p.Arg341Gln). ClinVar contains an entry for this variant (Variation ID: 1024496). 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. 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 disruptive. |
| Ambry Genetics | RCV002377412 | SCV002683588 | likely benign | Cardiovascular phenotype | 2022-04-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |