Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024836 | SCV001186922 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-25 | criteria provided, single submitter | clinical testing | The p.V2014A variant (also known as c.6041T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 6041. The valine at codon 2014 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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. |