Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000218027 | SCV000278720 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-06 | criteria provided, single submitter | clinical testing | The p.D91V variant (also known as c.272A>T), located in coding exon 2 of the MSH2 gene, results from an A to T substitution at nucleotide position 272. The aspartic acid at codon 91 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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. |
| Invitae | RCV000629774 | SCV000750730 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2022-11-23 | criteria provided, single submitter | clinical testing | 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. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function. ClinVar contains an entry for this variant (Variation ID: 234193). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 91 of the MSH2 protein (p.Asp91Val). |
| Color Diagnostics, |
RCV000218027 | SCV000904787 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-06 | criteria provided, single submitter | clinical testing | |
| MGZ Medical Genetics Center | RCV002288900 | SCV002581241 | uncertain significance | Muir-Torré syndrome | 2021-11-09 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003463604 | SCV004196839 | uncertain significance | Lynch syndrome 1 | 2023-05-16 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003998605 | SCV004824274 | uncertain significance | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |