Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004562051 | SCV001406219 | uncertain significance | Familial adenomatous polyposis 1 | 2019-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with valine at codon 51 of the APC protein (p.Leu51Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
| Baylor Genetics | RCV004562051 | SCV005056568 | uncertain significance | Familial adenomatous polyposis 1 | 2023-12-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004944927 | SCV005464973 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-05 | criteria provided, single submitter | clinical testing | The p.L51V variant (also known as c.151C>G), located in coding exon 2 of the APC gene, results from a C to G substitution at nucleotide position 151. The leucine at codon 51 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this variant remains unclear. |