Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001037072 | SCV001200469 | uncertain significance | not provided | 2024-04-30 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 477 of the MSH3 protein (p.Ala477Gly). 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: 836042). 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 | RCV002391098 | SCV002701046 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-25 | criteria provided, single submitter | clinical testing | The p.A477G variant (also known as c.1430C>G), located in coding exon 9 of the MSH3 gene, results from a C to G substitution at nucleotide position 1430. The alanine at codon 477 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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. |
| Baylor Genetics | RCV003461434 | SCV004197038 | uncertain significance | Endometrial carcinoma | 2023-10-11 | criteria provided, single submitter | clinical testing |