ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4114T>G (p.Cys1372Gly)

gnomAD frequency: 0.00001  dbSNP: rs748526932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308406 SCV001497855 uncertain significance Familial acute necrotizing encephalopathy 2022-08-15 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1010727). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs748526932, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1372 of the RANBP2 protein (p.Cys1372Gly).

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