ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)

gnomAD frequency: 0.00003  dbSNP: rs863224608
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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, Fulgent Genetics RCV002485318 SCV002789838 uncertain significance Fanconi anemia complementation group C 2022-04-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000197973 SCV002081168 uncertain significance Fanconi anemia 2018-06-02 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.