ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln)

gnomAD frequency: 0.00001  dbSNP: rs545733728
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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 RCV000822231 SCV000963023 uncertain significance Familial acute necrotizing encephalopathy 2018-08-20 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 disease. This variant is present in population databases (rs545733728, ExAC 0.002%). This sequence change replaces arginine with glutamine at codon 2039 of the RANBP2 protein (p.Arg2039Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Breakthrough Genomics, Breakthrough Genomics RCV004693393 SCV005187850 uncertain significance not provided criteria provided, single submitter not provided

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