ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)

gnomAD frequency: 0.00004  dbSNP: rs372333024
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804721 SCV000944643 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422755 SCV002726902 uncertain significance Inborn genetic diseases 2022-03-28 criteria provided, single submitter clinical testing The p.R695Q variant (also known as c.2084G>A), located in coding exon 11 of the INF2 gene, results from a G to A substitution at nucleotide position 2084. The arginine at codon 695 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other 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 RCV000804721 SCV002776399 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-10-25 criteria provided, single submitter clinical testing
GeneDx RCV003156294 SCV003845656 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV003156294 SCV005193489 uncertain significance not provided criteria provided, single submitter not provided

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.