Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001012762 | SCV001173256 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-23 | criteria provided, single submitter | clinical testing | The p.T564S variant (also known as c.1690A>T), located in coding exon 9 of the RET gene, results from an A to T substitution at nucleotide position 1690. The threonine at codon 564 is replaced by serine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001062237 | SCV001227021 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2024-04-24 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 564 of the RET protein (p.Thr564Ser). 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: 819854). 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 tolerated. 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. |
| All of Us Research Program, |
RCV001062237 | SCV004833247 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-07-11 | criteria provided, single submitter | clinical testing |