Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001361827 | SCV001557817 | uncertain significance | Fanconi anemia | 2020-02-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCC-related conditions. This sequence change replaces glycine with arginine at codon 116 of the FANCC protein (p.Gly116Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |
| Ambry Genetics | RCV003169807 | SCV003859381 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-23 | criteria provided, single submitter | clinical testing | The p.G116R variant (also known as c.346G>C) is located in coding exon 4 of the FANCC gene. The glycine at codon 116 is replaced by arginine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 4. 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. |