Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Prevention |
RCV000679754 | SCV000807058 | uncertain significance | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001344027 | SCV001538055 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2025-02-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 205 of the RET protein (p.Arg205Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 560872). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV002352101 | SCV002655662 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-18 | criteria provided, single submitter | clinical testing | The p.R205G variant (also known as c.613A>G), located in coding exon 3 of the RET gene, results from an A to G substitution at nucleotide position 613. The arginine at codon 205 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
| All of Us Research Program, |
RCV001344027 | SCV005430298 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2024-03-24 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with glycine at codon 205 of the RET protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RET-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679754 | SCV005623121 | uncertain significance | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing |