Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013467 | SCV001174056 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-01 | criteria provided, single submitter | clinical testing | The p.V63A variant (also known as c.188T>C), located in coding exon 3 of the PMS2 gene, results from a T to C substitution at nucleotide position 188. The valine at codon 63 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in several other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. |