ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val)

gnomAD frequency: 0.00001  dbSNP: rs1365253275
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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678338 SCV000804402 uncertain significance Vanishing white matter disease 2017-08-10 criteria provided, single submitter provider interpretation This is a 4 year old male with a history of developmental delays, autism spectrum disorder, and sleeping difficulties. Overall, he does not have dysmorphic features, but occipital flattening was noted. He is a compound heterozygote for 2 VUSs in EIF2B5 gene (p.Leu117Val and p.Arg422Gln), which are in trans. The p.Leu117Val variant is absent from gnomAD and computational models are inconsistent. This patient does not have the clinical features we would associate with a leukoencephalopathy, though he has not had an MRI. Additionally, whole exome sequencing also identified two additional variants of uncertain significance.
GeneDx RCV001766454 SCV001988973 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.