Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001211759 | SCV001383313 | uncertain significance | not provided | 2024-05-15 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 498 of the MSH3 protein (p.Pro498Arg). 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: 941889). 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. |
| Ambry Genetics | RCV002393485 | SCV002700083 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-07 | criteria provided, single submitter | clinical testing | The p.P498R variant (also known as c.1493C>G), located in coding exon 10 of the MSH3 gene, results from a C to G substitution at nucleotide position 1493. The proline at codon 498 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004570460 | SCV005054765 | uncertain significance | Endometrial carcinoma | 2023-12-16 | criteria provided, single submitter | clinical testing |