Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050827 | SCV001214953 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-03-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 847304). This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 27978560). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His428Thrfs*20) 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). |
Color Diagnostics, |
RCV001178389 | SCV001342827 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-27 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 11 of the PMS2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with Lynch syndrome (PMID: 29596542). 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. |
Center for Genomic Medicine, |
RCV003320796 | SCV004025119 | likely pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003455217 | SCV004188585 | 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. |