ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.9604A>G (p.Ile3202Val)

dbSNP: rs1678424306
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040419 SCV001203994 uncertain significance Familial acute necrotizing encephalopathy 2019-12-08 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 3202 of the RANBP2 protein (p.Ile3202Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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