Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742726 | SCV000647559 | uncertain significance | Familial adenomatous polyposis 1 | 2017-04-03 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. This sequence change replaces threonine with alanine at codon 1705 of the APC protein (p.Thr1705Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. |
Prevention |
RCV000679062 | SCV000805421 | uncertain significance | not provided | 2018-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341386 | SCV002644663 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-20 | criteria provided, single submitter | clinical testing | The p.T1705A variant (also known as c.5113A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 5113. The threonine at codon 1705 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |