ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3382A>C (p.Ser1128Arg)

dbSNP: rs2149272683
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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 RCV001362030 SCV001558026 uncertain significance Familial acute necrotizing encephalopathy 2020-08-06 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1128 of the RANBP2 protein (p.Ser1128Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RANBP2-related conditions. 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 C25"). 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.

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