Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000561210 | SCV000664728 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-03-06 | criteria provided, single submitter | clinical testing | The p.S220N variant (also known as c.659G>A), located in coding exon 6 of the PMS2 gene, results from a G to A substitution at nucleotide position 659. The serine at codon 220 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |