Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001347986 | SCV001542270 | uncertain significance | not provided | 2023-02-18 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 417 of the MSH3 protein (p.Arg417Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1043823). 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. 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. |
| Ambry Genetics | RCV002412093 | SCV002674731 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-21 | criteria provided, single submitter | clinical testing | The p.R417P variant (also known as c.1250G>C), located in coding exon 8 of the MSH3 gene, results from a G to C substitution at nucleotide position 1250. The arginine at codon 417 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |
| Baylor Genetics | RCV004570846 | SCV005054751 | uncertain significance | Endometrial carcinoma | 2023-12-28 | criteria provided, single submitter | clinical testing |