Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471245 | SCV000564005 | pathogenic | Lynch syndrome | 2016-12-26 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 3-4 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function and gross deletion variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic. |