Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000168035 | SCV000218687 | pathogenic | Lynch syndrome | 2014-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 396 (p.Met396Trpfs*2). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in PMS2 are known to be pathogenic (http://www.ncbi.nlm.nih.gov/books/NBK1211/). For these reasons, this sequence change has been classified as Pathogenic. |
| Invitae | RCV001389137 | SCV001590387 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-08-30 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with colorectal cancer (PMID: 31992580). ClinVar contains an entry for this variant (Variation ID: 188149). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met396Trpfs*2) in the PMS2 gene. It 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). For these reasons, this variant has been classified as Pathogenic. |