ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8369T>A (p.Phe2790Tyr)

gnomAD frequency: 0.00003  dbSNP: rs142150663
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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 RCV001360879 SCV001556834 uncertain significance Familial acute necrotizing encephalopathy 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with tyrosine at codon 2790 of the RANBP2 protein (p.Phe2790Tyr). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV001360879 SCV002815830 uncertain significance Familial acute necrotizing encephalopathy 2022-03-25 criteria provided, single submitter clinical testing

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