ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1756G>T (p.Gly586Cys)

dbSNP: rs367759539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196450 SCV001367058 uncertain significance Familial acute necrotizing encephalopathy 2020-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Invitae RCV001196450 SCV002312882 uncertain significance Familial acute necrotizing encephalopathy 2021-06-16 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 C65"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 930641). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 586 of the RANBP2 protein (p.Gly586Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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