ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.190A>G (p.Arg64Gly)

dbSNP: rs1695110805
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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 RCV001301522 SCV001490694 uncertain significance Familial acute necrotizing encephalopathy 2020-03-30 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. This sequence change replaces arginine with glycine at codon 64 of the RANBP2 protein (p.Arg64Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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