Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000573402 | SCV000663551 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-01-09 | criteria provided, single submitter | clinical testing | The p.E2V variant (also known as c.5A>T), located in coding exon 1 of the PMS2 gene, results from an A to T substitution at nucleotide position 5. The glutamic acid at codon 2 is replaced by valine, an amino acid with dissimilar 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. |