Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000461122 | SCV000563895 | pathogenic | Lynch syndrome | 2016-12-26 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 1 of the MSH2 gene, which includes the initiator codon. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' boundary is likely confined to intron 1 of the MSH2 gene. This 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. Similar deletions of exon 1 have been reported in the literature in individuals affected with Lynch syndrome or Lynch syndrome-associated cancer (PMID: 15870828, 15713769, 16142001, 16086322, 25759555, 19930554, 9843200, 20591884, 22283331). For these reasons, this variant has been classified as Pathogenic. |