ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)

dbSNP: rs747084358
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342953 SCV001536905 benign Congenital contractural arachnodactyly 2022-12-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810725 SCV002047710 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing The FBN2 c.251G>A; p.Arg84Gln variant (rs747084358), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on a single chromosome in the Genome Aggregation Database (1/241528 alleles), indicating it is not a common polymorphism. The arginine at codon 84 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.427). However, given the lack of clinical and functional data, the significance of the p.Arg84Gln variant is uncertain at this time.

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.