Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000567679 | SCV000662343 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-05-31 | criteria provided, single submitter | clinical testing | Insufficient evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species |
| Invitae | RCV000694172 | SCV000822603 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2018-06-12 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with valine at codon 350 of the MSH2 protein (p.Leu350Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 479855). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759093 | SCV000888195 | uncertain significance | not provided | 2018-03-29 | criteria provided, single submitter | clinical testing |