Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratoire de Génétique Moléculaire, |
RCV001281613 | SCV001468941 | likely pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV001281613 | SCV003525472 | pathogenic | not provided | 2022-03-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EIF2B5 protein function. ClinVar contains an entry for this variant (Variation ID: 992848). This missense change has been observed in individuals with leukoencephalopathy with vanishing white matter (PMID: 16807905, 25089094, 32293553). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 156 of the EIF2B5 protein (p.Ile156Met). |