ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.792delinsACA (p.Phe264fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003663780 SCV004377550 pathogenic not provided 2023-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe264Leufs*15) in the EIF2B5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EIF2B5 are known to be pathogenic (PMID: 11704758, 15060152, 21307862). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with leukoencephalopathy with vanishing white matter (PMID: 11704758). For these reasons, this variant has been classified as 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.