ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu)

gnomAD frequency: 0.00006  dbSNP: rs201567166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553897 SCV000646805 uncertain significance Familial acute necrotizing encephalopathy 2019-02-11 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant is present in population databases (rs201567166, ExAC 0.02%) but has not been reported in the literature in individuals with a RANBP2-related disease. This sequence change replaces phenylalanine with leucine at codon 1194 of the RANBP2 protein (p.Phe1194Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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