Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526606 | SCV000624574 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2017-07-17 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 12-15 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. A gross deletion of exons 12-15 has been reported in an individual affected with Lynch syndrome (PMID: 12494471). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |