Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218387 | SCV000273513 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | The c.-1C>A variant is located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from a C to A substitution 1 base upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV000218387 | SCV000903467 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569697 | SCV001793825 | uncertain significance | not provided | 2021-06-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Describes a nucleotide substitution 1 base pair upstream of the ATG translational start site of the PMS2 gene, occurring in the Kozak sequence, the conserved nucleotides just upstream of the ATG start codon, which play a major role in the initiation of translation; This variant is associated with the following publications: (PMID: 27535533) |
All of Us Research Program, |
RCV003997800 | SCV004822631 | likely benign | Lynch syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing |