ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp) (rs1472850646)

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735823 SCV000863538 uncertain significance Ethylmalonic encephalopathy 2018-03-15 no assertion criteria provided clinical testing The observed variant NM_014297.5: c.417T>G(p.Cys139Trp) in exon-4 of ETHE1 gene has not been reported in the 1000 Genomes and ExAC databases. The in-silico prediction of variant is probably damaging by Polyphen-2 and damaging by SIFT, LRT and MutationTaster2.

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.