ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln)

gnomAD frequency: 0.00001  dbSNP: rs1359594543
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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 RCV000814675 SCV000955094 uncertain significance Familial acute necrotizing encephalopathy 2019-08-22 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 428 of the RANBP2 protein (p.Arg428Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV004028822 SCV003695598 uncertain significance not specified 2022-09-14 criteria provided, single submitter clinical testing The c.1283G>A (p.R428Q) alteration is located in exon 10 (coding exon 10) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 1283, causing the arginine (R) at amino acid position 428 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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