Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000239780 | SCV000299104 | pathogenic | Lynch syndrome | 2016-12-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 3-9 of the MSH6 gene. This is expected to result in an absent or disrupted protein product, lacking ~88% of the amino acid sequence. While this particular variant has not been reported in the literature, loss-of-function variants and gross deletions of MSH6 are known to be pathogenic (PMID: 20487569, 20028993, 16885385). For these reasons, this variant has been classified as Pathogenic. |