Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217866 | SCV000277409 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-02-26 | criteria provided, single submitter | clinical testing | The p.E172K variant (also known as c.514G>A), located in coding exon 5 of the PMS2 gene, results from a G to A substitution at nucleotide position 514. The glutamic acid at codon 172 is replaced by lysine, an amino acid with 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. |