Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032542 | SCV001195849 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-05-31 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 9-12 of the MSH2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletions of exons 9-12 have been reported in the literature in individuals affected with Lynch syndrome and prostate cancer (PMID: 25117503, 24903654). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |