ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)

gnomAD frequency: 0.00001  dbSNP: rs113994054
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064868 SCV001229798 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This missense change has been observed in individuals with EIF2B5-related conditions (PMID: 12325082, 15136673). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects EIF2B5 function (PMID: 19023445). 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: 5946). This variant is present in population databases (rs113994054, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 195 of the EIF2B5 protein (p.Arg195His).
OMIM RCV003221412 SCV000026492 pathogenic Leukoencephalopathy with vanishing white matter 5 2002-10-01 no assertion criteria provided literature only
GeneReviews RCV000006310 SCV000996325 not provided Vanishing white matter disease no assertion provided literature only Cree founder variant, associated w/severe disease
Natera, Inc. RCV000006310 SCV002079140 pathogenic Vanishing white matter disease 2020-11-11 no assertion criteria provided clinical testing

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