Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076847 | SCV000108335 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV003593905 | SCV004294449 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly74Valfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with endometrial cancer, ovarian cancer and/or Lynch syndrome (PMID: 20186688, 22306203, 27435373). For these reasons, this variant has been classified as Pathogenic. |