Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000240269 | SCV000299157 | pathogenic | Lynch syndrome | 2017-01-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 1-6 of the MSH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene. The 3' boundary is likely confined to intron 6 of the MSH2 gene. This gross deletion is expected to result in an absent or disrupted protein product. Deletions of exons 1-6 have been reported in several affected individuals and families, and are clearly defined as Lynch syndrome causative alleles (PMID: 15942939, 16086322, 16143124). A particular deletion of exons 1-6 of the MSH2 gene is a known founder mutation in the North American population (PMID: 12658575, 16143124, 14871915). Because the exact breakpoints of this deletion are unknown, it is uncertain whether or not the deletion identified in this individual is that founder mutation. For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV002287891 | SCV000021993 | pathogenic | Mismatch repair cancer syndrome 2 | 2009-02-01 | no assertion criteria provided | literature only | |
| OMIM | RCV002287890 | SCV000045056 | pathogenic | Lynch syndrome 1 | 2009-02-01 | no assertion criteria provided | literature only |