ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2904G>C (p.Gln968His)

gnomAD frequency: 0.00011  dbSNP: rs149515235
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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 RCV000645997 SCV000767752 uncertain significance Familial acute necrotizing encephalopathy 2020-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 968 of the RANBP2 protein (p.Gln968His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs149515235, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with RANBP2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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