Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002552589 | SCV001209768 | uncertain significance | Familial adenomatous polyposis 1 | 2020-05-12 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions. This variant is present in population databases (rs777456713, ExAC 0.01%). This sequence change replaces leucine with arginine at codon 87 of the APC protein (p.Leu87Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. |
Ambry Genetics | RCV002429613 | SCV002744531 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-23 | criteria provided, single submitter | clinical testing | The p.L87R variant (also known as c.260T>G), located in coding exon 3 of the APC gene, results from a T to G substitution at nucleotide position 260. The leucine at codon 87 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |