ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7974C>G (p.Phe2658Leu)

gnomAD frequency: 0.00004  dbSNP: rs368484651
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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 RCV001217754 SCV001389606 uncertain significance Familial acute necrotizing encephalopathy 2020-01-11 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is present in population databases (rs368484651, ExAC 0.03%). This sequence change replaces phenylalanine with leucine at codon 2658 of the RANBP2 protein (p.Phe2658Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Mayo Clinic Laboratories, Mayo Clinic RCV004792809 SCV005412862 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing BP4, PP2

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