ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu)

gnomAD frequency: 0.00011  dbSNP: rs115106428
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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 RCV000646008 SCV000767763 uncertain significance Familial acute necrotizing encephalopathy 2022-02-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C65". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 537213). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs115106428, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1481 of the RANBP2 protein (p.Gly1481Glu).

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