ClinVar Miner

Submissions for variant NM_024417.5(FDXR):c.926G>A (p.Arg309Gln)

gnomAD frequency: 0.00001  dbSNP: rs948669536
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823457 SCV002072903 uncertain significance Auditory neuropathy-optic atrophy syndrome criteria provided, single submitter clinical testing The missense variant p.R309Q in FDXR (NM_024417.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.R309Q variant is observed in 1/1,07,464 (0.0009%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.R309Q missense variant is predicted to be damaging by both SIFT and PolyPhen2. The arginine residue at codon 309 of FDXR is conserved in all mammalian species. The nucleotide c.926 in FDXR is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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.