ClinVar Miner

Submissions for variant NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln)

gnomAD frequency: 0.00002  dbSNP: rs113994033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000004333 SCV000914923 uncertain significance Vanishing white matter disease 2018-11-28 criteria provided, single submitter clinical testing The EIF2B4 c.1067G>A (p.Arg356Gln) missense variant has been reported in three individuals, including a sibling pair, affected with white matter vanishing disease, all in a compound heterozygous state with a missense variant. The variant was present in one unaffected parent in a heterozygous state, absent from 120 control chromosomes and is reported at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. Based on the limited evidence, the p.Arg356Gln variant is classified as a variant of unknown significance but suspicious for pathogenicity for childhood ataxia with central nervous system hypomyelination/vanishing white matter. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV003221393 SCV000024504 pathogenic Leukoencephalopathy with vanishing white matter 4 2002-02-01 no assertion criteria provided literature only

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