Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003637511 | SCV004552149 | uncertain significance | Fanconi anemia | 2023-07-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 570 of the FANCG protein (p.Leu570Phe). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCG protein function. This variant has not been reported in the literature in individuals affected with FANCG-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV005335902 | SCV006000252 | uncertain significance | Inborn genetic diseases | 2025-03-08 | criteria provided, single submitter | clinical testing | The p.L570F variant (also known as c.1708C>T), located in coding exon 13 of the FANCG gene, results from a C to T substitution at nucleotide position 1708. The leucine at codon 570 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |