Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457067 | SCV000564012 | pathogenic | Lynch syndrome | 2016-07-30 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 6-9 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). A similar deletion of exons 6-9 has been reported in an individual affected with colorectal cancer (PMID: 20205264). For these reasons, this variant has been classified as Pathogenic. |