ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1289T>C (p.Val430Ala)

gnomAD frequency: 0.00001  dbSNP: rs113994079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972751 SCV002245654 pathogenic not provided 2023-08-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 430 of the EIF2B5 protein (p.Val430Ala). This variant is present in population databases (rs113994079, gnomAD 0.003%). This missense change has been observed in individual(s) with leukoencephalopathy with vanishing white matter (PMID: 11704758, 14566705). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1457929). 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. For these reasons, this variant has been classified as Pathogenic.

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