Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002510427 | SCV002819766 | likely pathogenic | Hereditary nonpolyposis colon cancer | 2022-12-23 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 7-15 in the PMS2 gene. The exact breakpoint at the 3' end of this variant is unknown and therefore this deletion might extend beyond the assayed region of the PMS2 gene. A presumed nomenclature of c.(705+1_706-1)_(*2475_?)del has been designated for the purposes of this classification. The variant was absent in 21694 control chromosomes (gnomAD Structural Variants dataset). To our knowledge, no occurrence of c.(705+1_706-1)_(*2475_?)del in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. However, similar gross deletions of exons 6-15 (HGMD: CG1511957; PMID: 26544533, 28135145) and exons 7-14 (HGMD: CG1310021; PMID: 23582141) have been previously identified as pathogenic. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |