Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019035 | SCV001180341 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | The p.T308A variant (also known as c.922A>G), located in coding exon 10 of the POLE gene, results from an A to G substitution at nucleotide position 922. The threonine at codon 308 is replaced by alanine, an amino acid with 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. |