Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023066 | SCV001184886 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-05-22 | criteria provided, single submitter | clinical testing | The p.Q160R variant (also known as c.479A>G), located in coding exon 3 of the MSH2 gene, results from an A to G substitution at nucleotide position 479. The glutamine at codon 160 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, this alteration is predicted to be borderline deleterious by MAPP-MMR in silico analyses (Chao EC et al. Hum. Mutat. 2008 Jun;29:852-60). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Center for Genomic Medicine, |
RCV003320786 | SCV004025226 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004004634 | SCV004822146 | uncertain significance | Lynch syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamine with arginine at codon 160 of the MSH2 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 MSH2-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. |