Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076397 | SCV000107422 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000076397 | SCV000253803 | pathogenic | Lynch syndrome | 2015-06-04 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exons 2-6 of the MSH2 gene. This deletion extends to both edges of the assayed region, and the exact 5' and 3' boundaries of this event are not known but are most likely contained somewhere within intron 1 and intron 6. Loss of function variants in MSH2 are known to be pathogenic. A deletion of exons 2-6 has been observed in an individual with colorectal cancer and two affected members of a Lynch Syndrome family (PMID: 15949572, 8808596). For these reasons, this variant has been classified as Pathogenic. |