ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1677A>G (p.Ile559Met)

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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 RCV002858129 SCV003229366 uncertain significance Familial acute necrotizing encephalopathy 2022-07-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs370737050, gnomAD 0.008%). 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 C0"). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 559 of the RANBP2 protein (p.Ile559Met).

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