ClinVar Miner

Submissions for variant NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)

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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 RCV003126362 SCV003802856 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing The EIF2B4 c.702G>C (p.Gln234His) missense variant results in the substitution of glutamine at amino acid position 234 with histidine. This variant may also be referred to as NM_015636:c.636G>C (p.Gln212His) or NM_001034116:c.639G>C (p.Gln213His). To our knowledge, this variant has not been reported in the peer-reviewed literature. The c.702G>C variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may have a deleterious effect on the gene or gene product. Based on the available evidence, the c.702G>C (p.Gln234His) variant is classified as a variant of uncertain significance for leukoencephalopathy with vanishing white matter.
Solve-RD Consortium RCV004765755 SCV005091497 likely pathogenic Leukoencephalopathy with vanishing white matter 1 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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