ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8498G>A (p.Gly2833Glu)

gnomAD frequency: 0.00002  dbSNP: rs560513063
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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 RCV001367434 SCV001563783 uncertain significance Familial acute necrotizing encephalopathy 2022-03-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs560513063, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2833 of the RANBP2 protein (p.Gly2833Glu). ClinVar contains an entry for this variant (Variation ID: 1058311). 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 tolerated.

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