ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)

gnomAD frequency: 0.00003  dbSNP: rs759470099
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245827 SCV001419145 uncertain significance Fanconi anemia 2023-06-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 122 of the FANCF protein (p.Arg122Gly). 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 FANCF protein function. ClinVar contains an entry for this variant (Variation ID: 970279). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (rs759470099, gnomAD 0.003%).
Fulgent Genetics, Fulgent Genetics RCV002484370 SCV002776153 uncertain significance Fanconi anemia complementation group F 2021-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619586 SCV005113438 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.364C>G (p.R122G) alteration is located in exon 1 (coding exon 1) of the FANCF gene. This alteration results from a C to G substitution at nucleotide position 364, causing the arginine (R) at amino acid position 122 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.