ClinVar Miner

Submissions for variant NM_001034116.2(EIF2B4):c.138GAA[2] (p.Lys49del)

dbSNP: rs772427644
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196440 SCV001367048 uncertain significance Vanishing white matter disease 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001859184 SCV002244827 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This variant, c.144_146del, results in the deletion of 1 amino acid(s) of the EIF2B4 protein (p.Lys49del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772427644, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with EIF2B4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified 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.