Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000195900 | SCV000253773 | pathogenic | Lynch syndrome | 2015-04-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 583 (p.Arg583*). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001389260 | SCV001590552 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2015-04-24 | criteria provided, single submitter | clinical testing | While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 583 (p.Arg583*). It is expected to result in an absent or disrupted protein product. |