Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207140 | SCV001378480 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-10-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile502Tyrfs*5) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH6-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). |