ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.2015A>G (p.Gln672Arg)

gnomAD frequency: 0.00001  dbSNP: rs180808873
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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 RCV001996822 SCV002223299 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 672 of the EIF2B5 protein (p.Gln672Arg). This variant is present in population databases (rs180808873, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with EIF2B5-related conditions. 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 tolerated. 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.

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