Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002407624 | SCV002716776 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-26 | criteria provided, single submitter | clinical testing | The p.G588V variant (also known as c.1763G>T), located in coding exon 10 of the RET gene, results from a G to T substitution at nucleotide position 1763. The glycine at codon 588 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV003645925 | SCV004521307 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-03-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 588 of the RET protein (p.Gly588Val). This variant has not been reported in the literature in individuals affected with RET-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 1779627). |