If at least one pathogenic variant exists in a gene, any variant in that gene could potentially be pathogenic. Conversely, if there are no conclusively pathogenic variants in a gene, we can't be sure that the gene causes disease. While reviewing the evidence for each variant in each gene is a time-consuming process, we want to make sure that the evidence meets our own high standards.
To help move the industry forward, we are active participants in collaborative efforts to identify which genes and variants cause disease. One of these projects is the ClinGen Gene-Disease Validity project, though their scope is slightly different than Invitae’s. While the ClinGen project aims to figure out which genes cause which disease, the project is also interested in comparing the relative amounts of available information for each gene.