Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461666 | SCV000564070 | pathogenic | Lynch syndrome | 2016-10-12 | criteria provided, single submitter | clinical testing | This variant is a gross 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. While this gross deletion has not been reported in the literature, loss-of-function variants including gross deletions in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic. |