Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Laboratory Medicine, |
RCV001248821 | SCV001364280 | likely pathogenic | Vanishing white matter disease | 2020-06-04 | criteria provided, single submitter | clinical testing | The c.503T>C variant has been identified in 0% by the Genome Aggregation Database (gnomAD). Substitution of the two variants occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Our functional validation of point mutations by rescue experiment in EIF2B3-deficient zebrafish has suppported the pathogenecity of these variants. (It has not been published yet.) For these reasons, this variant has been classified as Likely pathogenic. |