Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076898 | SCV000108394 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
University of Washington Department of Laboratory Medicine, |
RCV000076898 | SCV000266121 | pathogenic | Lynch syndrome | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000076898 | SCV000299130 | pathogenic | Lynch syndrome | 2016-12-09 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 9-10 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2, including gross deletions, are known to be pathogenic. A deletion of exons 9-10, along with a second pathogenic PMS2 variant, has been reported in the literature in an individual with early-onset colon cancer (PMID: 18602922). For these reasons, this variant has been classified as Pathogenic. |