Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527294 | SCV000625540 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2020-01-11 | 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 been reported in compound heterozygosity with another pathogenic PMS2 allele in an individual affected with constitutional mismatch repair deficiency (CMMRD) (PMID: 26318770). ClinVar contains an entry for this variant (Variation ID: 455662). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg527Glyfs*68) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003449544 | SCV004188609 | pathogenic | Lynch syndrome 4 | 2023-09-20 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |