ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.1576_1580del (p.Glu526fs)

dbSNP: rs1555417104
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
GeneDx RCV000521888 SCV000619037 likely pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing The c.1576_1580delGAAAG variant in the EIF2AK4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1576_1580delGAAAG variant causes a frameshift starting with codon Glutamic acid 526, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Glu526MetfsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1576_1580delGAAAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1576_1580delGAAAG as a likely pathogenic variant.

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.