Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016103 | SCV001177018 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-27 | criteria provided, single submitter | clinical testing | The p.G871R variant (also known as c.2611G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 2611. The glycine at codon 871 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved through mammals but not in all 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. |