ClinVar Miner

Submissions for variant NM_001414.4(EIF2B1):c.622A>T (p.Asn208Tyr)

gnomAD frequency: 0.00001  dbSNP: rs113994007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851642 SCV002179972 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 208 of the EIF2B1 protein (p.Asn208Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is present in population databases (rs113994007, ExAC 0.009%). This missense change has been observed in individual(s) with leukoencephalopathy with vanishing white matter (PMID: 11835386). ClinVar contains an entry for this variant (Variation ID: 4124). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects EIF2B1 function (PMID: 26285592). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000004340 SCV000024511 pathogenic Vanishing white matter disease 2015-08-19 no assertion criteria provided literature only

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