Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001801018 | SCV002046248 | likely pathogenic | not provided | 2020-09-28 | criteria provided, single submitter | clinical testing | This frameshift variant alters the translational reading frame of the PMS2 mRNA and is predicted to cause the premature termination of PMS2 protein synthesis. To the best of our knowledge, the variant has not been reported in the published literature. Based on the available information, we predict that the variant is likely pathogenic. |
| Ambry Genetics | RCV002406890 | SCV002719268 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-08 | criteria provided, single submitter | clinical testing | The c.1938delG pathogenic mutation, located in coding exon 11 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 1938, causing a translational frameshift with a predicted alternate stop codon (p.K647Sfs*18). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003451939 | SCV004188661 | pathogenic | Lynch syndrome 4 | 2023-09-21 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003451939 | SCV004207861 | likely pathogenic | Lynch syndrome 4 | 2023-03-30 | criteria provided, single submitter | clinical testing |