Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017657 | SCV001178773 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | The p.I280L variant (also known as c.838A>C), located in coding exon 8 of the PTEN gene, results from an A to C substitution at nucleotide position 838. The isoleucine at codon 280 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |