Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000763340 | SCV000894022 | likely pathogenic | Vanishing white matter disease | 2018-10-31 | criteria provided, single submitter | clinical testing |