ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn)

gnomAD frequency: 0.00001  dbSNP: rs1206917390
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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 RCV000646010 SCV000767765 uncertain significance Familial acute necrotizing encephalopathy 2018-05-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 1995 of the RANBP2 protein (p.Asp1995Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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