ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2015A>G (p.Glu672Gly)

dbSNP: rs767990485
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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 RCV001944643 SCV002137148 uncertain significance Familial acute necrotizing encephalopathy 2023-08-24 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. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 672 of the RANBP2 protein (p.Glu672Gly). This variant is present in population databases (rs767990485, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1366358). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.

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