Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000630877 | SCV000751848 | uncertain significance | Fanconi anemia | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan with cysteine at codon 506 of the FANCC protein (p.Trp506Cys). The tryptophan residue is weakly conserved and there is a large physicochemical difference between tryptophan and cysteine. 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: "Deleterious"; PolyPhen-2: "Possibly 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 | RCV002387999 | SCV002708138 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-30 | criteria provided, single submitter | clinical testing | The p.W506C variant (also known as c.1518G>C), located in coding exon 13 of the FANCC gene, results from a G to C substitution at nucleotide position 1518. The tryptophan at codon 506 is replaced by cysteine, an amino acid with highly dissimilar 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. |
| Natera, |
RCV000630877 | SCV002081139 | uncertain significance | Fanconi anemia | 2021-03-02 | no assertion criteria provided | clinical testing |