Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000773927 | SCV000907627 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000773927 | SCV002644901 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-26 | criteria provided, single submitter | clinical testing | The p.G1721V variant (also known as c.5162G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 5162. The glycine at codon 1721 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well 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. |