ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2818G>T (p.Gly940Cys)

gnomAD frequency: 0.00017  dbSNP: rs201001226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368264 SCV001564651 uncertain significance Familial acute necrotizing encephalopathy 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 940 of the RANBP2 protein (p.Gly940Cys). This variant is present in population databases (rs201001226, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. 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: 1059054). 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 C65"). 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.
GeneDx RCV001751726 SCV001987684 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV001751726 SCV005187848 uncertain significance not provided criteria provided, single submitter not provided

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