ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.9236G>A (p.Arg3079Gln)

dbSNP: rs532940205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370450 SCV001566939 uncertain significance Familial acute necrotizing encephalopathy 2022-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3079 of the RANBP2 protein (p.Arg3079Gln). 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: 1060949). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs532940205, gnomAD 0.003%).
Ambry Genetics RCV004656576 SCV005156734 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing The c.9236G>A (p.R3079Q) alteration is located in exon 28 (coding exon 28) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 9236, causing the arginine (R) at amino acid position 3079 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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