Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004564852 | SCV002207994 | uncertain significance | Familial adenomatous polyposis 1 | 2021-08-02 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glycine at codon 2684 of the APC protein (p.Asp2684Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. |
| Ambry Genetics | RCV004042903 | SCV005034399 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-23 | criteria provided, single submitter | clinical testing | The p.D2684G variant (also known as c.8051A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 8051. The aspartic acid at codon 2684 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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. |