Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219116 | SCV000273147 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-09 | criteria provided, single submitter | clinical testing | The c.-2C>T variant is located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from a C to T substitution 2 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV000483583 | SCV000570612 | uncertain significance | not provided | 2022-01-12 | criteria provided, single submitter | clinical testing | Describes a nucleotide substitution 2 base pairs upstream of the ATG translational start site, 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; Has not been previously published as pathogenic or benign to our knowledge; Has no predicted effect on splicing and nucleotide is not conserved across species; Not observed at significant frequency in large population cohorts (gnomAD) |
Color Diagnostics, |
RCV000219116 | SCV000906716 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-18 | criteria provided, single submitter | clinical testing |