ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe)

dbSNP: rs1179200305
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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 RCV000542449 SCV000646841 uncertain significance Familial acute necrotizing encephalopathy 2017-05-01 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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 not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RANBP2-related disease. This sequence change replaces leucine with phenylalanine at codon 247 of the RANBP2 protein (p.Leu247Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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