Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569635 | SCV000674252 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-02-20 | criteria provided, single submitter | clinical testing | The p.P17H variant (also known as c.50C>A), located in coding exon 2 of the PMS2 gene, results from a C to A substitution at nucleotide position 50. The proline at codon 17 is replaced by histidine, an amino acid with similar properties. This amino acid position is well 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. |