ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val)

dbSNP: rs149826319
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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 RCV000536673 SCV000646795 uncertain significance Familial acute necrotizing encephalopathy 2017-07-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1012 of the RANBP2 protein (p.Gly1012Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs149826319, ExAC 0.004%). This variant has not been reported in the literature in individuals with RANBP2-related disease. 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 C65"). 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.

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