ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5800C>T (p.Arg1934Cys)

dbSNP: rs199920895
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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 RCV001046539 SCV001210444 uncertain significance Familial acute necrotizing encephalopathy 2022-02-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 843837). 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. This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs199920895, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1934 of the RANBP2 protein (p.Arg1934Cys).

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