ClinVar Miner

Submissions for variant NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)

gnomAD frequency: 0.00006  dbSNP: rs141988913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498180 SCV000589570 likely pathogenic not provided 2018-09-25 criteria provided, single submitter clinical testing The R91H variant in the EIF2B3 gene has been reported previously in an individual with vanishing white matter disease who was heterozygous for the R91H variant and another disease-causing variant (Robinson et al., 2014). The R91H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R91H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R91H as a likely pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV000763340 SCV000894022 likely pathogenic Vanishing white matter disease 2018-10-31 criteria provided, single submitter clinical testing

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