Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076402 | SCV000107428 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000475834 | SCV000563900 | pathogenic | Lynch syndrome | 2016-10-24 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants including gross deletions in MSH2 are known to be pathogenic. A similar deletion of exon 2 has been reported in families with hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome (PMID: 16143124, 24039744, 9843200, 14729822). For these reasons, this variant has been classified as Pathogenic. |