ClinVar Miner

Submissions for variant NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro)

dbSNP: rs1643855445
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
Department of Laboratory Medicine, Yonsei University College of Medicine RCV001248821 SCV001364280 likely pathogenic Vanishing white matter disease 2020-06-04 criteria provided, single submitter clinical testing The c.503T>C variant has been identified in 0% by the Genome Aggregation Database (gnomAD). Substitution of the two variants occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Our functional validation of point mutations by rescue experiment in EIF2B3-deficient zebrafish has suppported the pathogenecity of these variants. (It has not been published yet.) For these reasons, this variant has been classified as Likely pathogenic.

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.