ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)

gnomAD frequency: 0.00001  dbSNP: rs1178109063
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995765 SCV001150100 pathogenic Wolcott-Rallison dysplasia 2018-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549918 SCV003524700 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 807600). This variant is also known as R902X and Arg902Ter. This premature translational stop signal has been observed in individual(s) with Wolcott-Rallison syndrome (PMID: 19837917, 31183082). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg903*) in the EIF2AK3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EIF2AK3 are known to be pathogenic (PMID: 11997520).
Baylor Genetics RCV000995765 SCV004194588 pathogenic Wolcott-Rallison dysplasia 2023-09-12 criteria provided, single submitter clinical testing

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.