Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796122 | SCV000935619 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-10-30 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the MSH6 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exon 2 has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic. |