ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4253A>G (p.His1418Arg)

gnomAD frequency: 0.00001  dbSNP: rs1478874755
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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 RCV002045367 SCV002293044 uncertain significance Familial acute necrotizing encephalopathy 2021-09-09 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 1418 of the RANBP2 protein (p.His1418Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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