ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV005058234 SCV005697705 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr415Ilefs*12) in the EIF2AK4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EIF2AK4 are known to be pathogenic (PMID: 12215525, 24135949, 24292273, 24310610, 28972005, 29743074). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with EIF2AK4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1706636). For these reasons, this variant has been classified as Pathogenic.
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine RCV002285245 SCV002575059 pathogenic Pulmonary arterial hypertension 2022-09-26 no assertion criteria provided 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.