Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004568967 | SCV000647575 | uncertain significance | Familial adenomatous polyposis 1 | 2017-02-15 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change replaces threonine with isoleucine at codon 1773 of the APC protein (p.Thr1773Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. |
| Ambry Genetics | RCV002350316 | SCV002640714 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing | The p.T1773I variant (also known as c.5318C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 5318. The threonine at codon 1773 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly 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. |