Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010914 | SCV001171176 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-05 | criteria provided, single submitter | clinical testing | The p.M438V variant (also known as c.1312A>G), located in coding exon 9 of the APC gene, results from an A to G substitution at nucleotide position 1312. The amino acid change results in methionine to valine at codon 438, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico protein prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |