ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.593G>A (p.Arg198His)

gnomAD frequency: 0.00001  dbSNP: rs757718519
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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 RCV001044348 SCV001208139 uncertain significance Familial acute necrotizing encephalopathy 2019-05-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 198 of the RANBP2 protein (p.Arg198His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 C25"). 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.
Ambry Genetics RCV004031355 SCV004934412 uncertain significance not specified 2023-12-09 criteria provided, single submitter clinical testing The c.593G>A (p.R198H) alteration is located in exon 5 (coding exon 5) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 593, causing the arginine (R) at amino acid position 198 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693497 SCV005187844 uncertain significance not provided criteria provided, single submitter not provided

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