ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser)

gnomAD frequency: 0.00016  dbSNP: rs146109021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552535 SCV000646808 uncertain significance Familial acute necrotizing encephalopathy 2022-10-05 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 C45"). ClinVar contains an entry for this variant (Variation ID: 469457). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs146109021, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1218 of the RANBP2 protein (p.Asn1218Ser).

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