Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016875 | SCV001177876 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-10 | criteria provided, single submitter | clinical testing | The p.A96V variant (also known as c.287C>T), located in coding exon 4 of the PMS2 gene, results from a C to T substitution at nucleotide position 287. The alanine at codon 96 is replaced by valine, 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. |