ClinVar Miner

Submissions for variant NM_001414.4(EIF2B1):c.875C>G (p.Thr292Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340835 SCV004047597 uncertain significance Leukoencephalopathy with vanishing white matter 1 criteria provided, single submitter clinical testing The missense variant c.875C>G (p.Thr292Arg) in EIF2B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr292Arg variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Thr at position 292 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Thr292Arg in EIF2B1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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