Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021743 | SCV001183394 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-23 | criteria provided, single submitter | clinical testing | The p.H1349D variant (also known as c.4045C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 4045. The histidine at codon 1349 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |