Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000654550 | SCV000776444 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-05-08 | 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. 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: 543720). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is present in population databases (rs200989078, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1031 of the RET protein (p.Asp1031Asn). |
| Mendelics | RCV000988350 | SCV001138036 | uncertain significance | Multiple endocrine neoplasia, type 2a | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001018560 | SCV001179814 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-02 | criteria provided, single submitter | clinical testing | The p.D1031N variant (also known as c.3091G>A), located in coding exon 19 of the RET gene, results from a G to A substitution at nucleotide position 3091. The aspartic acid at codon 1031 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |