ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.9033T>C (p.Ala3011=)

gnomAD frequency: 0.00001  dbSNP: rs1463897413
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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 RCV001301759 SCV001490938 uncertain significance Familial acute necrotizing encephalopathy 2021-11-05 criteria provided, single submitter clinical testing This sequence change affects codon 3011 of the RANBP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RANBP2 protein. It affects a nucleotide within the consensus splice site. 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1004969). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%).

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