Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024389 | SCV001186397 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-17 | criteria provided, single submitter | clinical testing | The p.R189T variant (also known as c.566G>C), located in coding exon 6 of the PTEN gene, results from a G to C substitution at nucleotide position 566. The arginine at codon 189 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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. |