Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001366807 | SCV001563124 | uncertain significance | Fanconi anemia | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with valine at codon 400 of the FANCC protein (p.Phe400Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCC-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. |
| Ambry Genetics | RCV004619674 | SCV005116100 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-22 | criteria provided, single submitter | clinical testing | The p.F400V variant (also known as c.1198T>G), located in coding exon 12 of the FANCC gene, results from a T to G substitution at nucleotide position 1198. The phenylalanine at codon 400 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Natera, |
RCV001366807 | SCV002081171 | uncertain significance | Fanconi anemia | 2021-02-07 | no assertion criteria provided | clinical testing |