Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197973 | SCV000254252 | uncertain significance | Fanconi anemia | 2022-10-12 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 421 of the FANCC protein (p.Ala421Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 216282). 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 FANCC protein function. 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 | RCV001010607 | SCV001170832 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-05 | criteria provided, single submitter | clinical testing | The p.A421G variant (also known as c.1262C>G), located in coding exon 12 of the FANCC gene, results from a C to G substitution at nucleotide position 1262. The alanine at codon 421 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Fulgent Genetics, |
RCV002485318 | SCV002789838 | uncertain significance | Fanconi anemia complementation group C | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000197973 | SCV002081168 | uncertain significance | Fanconi anemia | 2018-06-02 | no assertion criteria provided | clinical testing |