ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281613 SCV001468941 likely pathogenic not provided criteria provided, single submitter clinical testing
Invitae 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).

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