Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629989 | SCV000750945 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PMS2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 525740). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln346*) 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). |
Gene |
RCV001591406 | SCV001824951 | pathogenic | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation [or nonsense mediated decay] in a gene for which loss-of-function is a known mechanism of disease; Not observed [at a significant frequency] in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Color Diagnostics, |
RCV001805233 | SCV002053312 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-26 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 10 of the PMS2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PMS2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Myriad Genetics, |
RCV003451496 | SCV004188587 | 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. |