Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000708613 | SCV000821742 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | This is a frameshift variant in exon 4 of the MSH6 mRNA resulting in an unrecognizable protein product after codon 293 and the creation of a novel translational termination signal 18 amino acid residues later. The protein thus produced is expected to be truncated and non-functional. Truncating variants MSH6 are known to be pathogenic (PMID: 24362816, 18269114). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). |