ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) (rs527435707)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726094 SCV000341902 uncertain significance not provided 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000726094 SCV000583361 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing The R387W variant in the DYSF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R387W variant is observed in 10/16502 (0.06%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R387W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (E389K, E389Q) have been reported in the Human Gene Mutation Database in association with DYSF-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret R387W as a variant of 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.