Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clinical Genetics and Genomics, |
RCV001269685 | SCV001449859 | pathogenic | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001880196 | SCV002142061 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2022-06-22 | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 988371). 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 366 of the RET protein (p.Glu366Asp). |
| Ambry Genetics | RCV004035435 | SCV005028255 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-25 | criteria provided, single submitter | clinical testing | The p.E366D variant (also known as c.1098G>C), located in coding exon 6 of the RET gene, results from a G to C substitution at nucleotide position 1098. The glutamic acid at codon 366 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |