Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001950116 | SCV002205656 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-10-04 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases (gnomAD) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1429568). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 31992580). This sequence change creates a premature translational stop signal (p.Gln781*) 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). |
| Ambry Genetics | RCV002442892 | SCV002732614 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-17 | criteria provided, single submitter | clinical testing | The p.Q781* pathogenic mutation (also known as c.2341C>T), located in coding exon 14 of the PMS2 gene, results from a C to T substitution at nucleotide position 2341. This changes the amino acid from a glutamine to a stop codon within coding exon 14. 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, |
RCV003452185 | SCV004187688 | pathogenic | Lynch syndrome 4 | 2023-09-22 | 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. |