Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064864 | SCV001229793 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-12-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln604*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003455284 | SCV004188586 | pathogenic | Lynch syndrome 4 | 2023-09-20 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Baylor Genetics | RCV003455284 | SCV004207853 | likely pathogenic | Lynch syndrome 4 | 2023-05-08 | criteria provided, single submitter | clinical testing |