ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1756G>A (p.Glu586Lys) (rs576023546)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002244 SCV001160120 uncertain significance not specified 2018-12-12 criteria provided, single submitter clinical testing The FGFR3 c.1756G>A; p.Glu586Lys variant (rs576023546), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Latino population with an allele frequency of 0.028% (10/35,360 alleles) in the Genome Aggregation Database. The glutamic acid at codon 586 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Glu586Lys 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.