Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002298285 | SCV002592519 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2022-07-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 76 of the RASA1 protein (p.Ser76Ile). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with RASA1-related conditions. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 | RCV002443308 | SCV002733379 | uncertain significance | Cardiovascular phenotype | 2017-05-31 | criteria provided, single submitter | clinical testing | The c.226_227delTCinsAT variant (also known as p.S76I), located in coding exon 1 of the RASA1 gene, results from an in-frame deletion of TC and insertion of AT at nucleotide positions 226 to 227. This results in the substitution of the serine residue for an isoleucine residue at codon 76, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |