Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014914 | SCV001175686 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-15 | criteria provided, single submitter | clinical testing | The p.L749V variant (also known as c.2245T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 2245. The leucine at codon 749 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. |