Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018591 | SCV001179847 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-05 | criteria provided, single submitter | clinical testing | The p.A300T variant (also known as c.898G>A), located in coding exon 8 of the PMS2 gene, results from a G to A substitution at nucleotide position 898. The alanine at codon 300 is replaced by threonine, an amino acid with 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. |