ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6035A>G (p.His2012Arg)

gnomAD frequency: 0.00008  dbSNP: rs772929320
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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 RCV001314018 SCV001504532 uncertain significance Familial acute necrotizing encephalopathy 2022-02-04 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1015192). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs772929320, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 2012 of the RANBP2 protein (p.His2012Arg).

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