ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4830G>C (p.Trp1610Cys)

gnomAD frequency: 0.00001  dbSNP: rs201397627
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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 RCV001044945 SCV001208769 uncertain significance Familial acute necrotizing encephalopathy 2022-02-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 842516). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 1610 of the RANBP2 protein (p.Trp1610Cys). This variant is present in population databases (rs201397627, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693501 SCV005187849 uncertain significance not provided criteria provided, single submitter not provided

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