Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002369449 | SCV002663785 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-02-19 | criteria provided, single submitter | clinical testing | The p.I227L variant (also known as c.679A>C), located in coding exon 6 of the PMS2 gene, results from an A to C substitution at nucleotide position 679. The isoleucine at codon 227 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004005737 | SCV004827276 | uncertain significance | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |