Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
RCV004015081 | SCV004829991 | likely pathogenic | Lynch syndrome | 2023-11-16 | criteria provided, single submitter | clinical testing | The c.3646G>T (p.Gly1216*) variant in the MSH6 gene is located on the exon 7 and is predicted to introduce a premature translation termination codon (p.Gly1216*), resulting in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 30376427, 18269114, 28514183). The variant has been reported in an individual with colorectal cancer (PMID: 35638907). The variant is not reported in ClinVar. The variant is absent in the general population database (gnomAD). Therefore, the c.3646G>T (p.Gly1216*) variant of MSH6 has been classified as likely pathogenic. |