Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001938125 | SCV002185204 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2022-05-26 | criteria provided, single submitter | clinical testing | 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 272 of the RET protein (p.Phe272Ser). |
| Ambry Genetics | RCV002423021 | SCV002679593 | uncertain significance | Hereditary cancer-predisposing syndrome | 2025-01-20 | criteria provided, single submitter | clinical testing | The p.F272S variant (also known as c.815T>C), located in coding exon 4 of the RET gene, results from a T to C substitution at nucleotide position 815. The phenylalanine at codon 272 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is not 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. |