Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076028 | SCV000107030 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000258041 | SCV000260709 | pathogenic | Lynch syndrome | 2016-03-31 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exons 7 of the MSH2 gene. Deletion of exon 7 is expected to cause a frameshift and result in an absent or disrupted protein product Truncations in MSH2 are known to be pathogenic. A similar deletion of exon 7 has been reported in multiple patients affected with Lynch syndrome (PMID: 8574961, 15949572, 16541406, 18931482, 19250818, 21778331, 21791569, 22883484, 24039744). For these reasons, this variant has been classified as Pathogenic. |