Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |