Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000573234 | SCV000662530 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-04 | criteria provided, single submitter | clinical testing | The p.D197G variant (also known as c.590A>G), located in coding exon 3 of the MSH6 gene, results from an A to G substitution at nucleotide position 590. The aspartic acid at codon 197 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. |
| Color Diagnostics, |
RCV000573234 | SCV000904331 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with glycine at codon 197 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Baylor Genetics | RCV003459292 | SCV004195563 | uncertain significance | Endometrial carcinoma | 2023-08-24 | criteria provided, single submitter | clinical testing |