Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204261 | SCV000260633 | pathogenic | Lynch syndrome | 2016-01-12 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exon 14 of the PMS2 gene. This creates a premature translational stop signal and disrupted PMS2 protein, removing the C-terminal portion of the MLH1 interaction domain (PMID: 10037723). Truncating variants in PMS2 are known to be pathogenic. Deletions of exon 14 have been reported in the literature in individuals with Lynch syndrome tumors (PMID: 23837913, 23012243). For these reasons, this variant has been classified as Pathogenic. |