Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001009654 | SCV001169747 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-30 | criteria provided, single submitter | clinical testing | The p.I334V variant (also known as c.1000A>G), located in coding exon 10 of the PMS2 gene, results from an A to G substitution at nucleotide position 1000. The isoleucine at codon 334 is replaced by valine, an amino acid with highly 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. |