Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000629763 | SCV000750719 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2017-08-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant has not been reported in the literature in individuals with MSH6-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1186*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003451484 | SCV004187276 | pathogenic | Lynch syndrome 5 | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |