ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp)

dbSNP: rs936904481
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 RCV001802390 SCV002047925 uncertain significance Cutis laxa, autosomal recessive, type 1B 2021-07-21 criteria provided, single submitter clinical testing The EFEMP2 c.157C>T; p.Arg53Trp variant (rs936904481), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 53 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.54). Due to limited information, the clinical significance of the p.Arg53Trp 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.