Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001313973 | SCV001504484 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2020-07-16 | criteria provided, single submitter | clinical testing | 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"). 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. This variant has not been reported in the literature in individuals with RET-related conditions. This variant is present in population databases (rs752352085, ExAC 0.002%). This sequence change replaces glutamic acid with glycine at codon 979 of the RET protein (p.Glu979Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. |
| Ambry Genetics | RCV004944997 | SCV005491004 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-05 | criteria provided, single submitter | clinical testing | The p.E979G variant (also known as c.2936A>G), located in coding exon 17 of the RET gene, results from an A to G substitution at nucleotide position 2936. The glutamic acid at codon 979 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |