ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4994AGG[1] (p.Glu1666del)

dbSNP: rs1553496202
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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 RCV000537269 SCV000646818 uncertain significance Familial acute necrotizing encephalopathy 2022-06-20 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. ClinVar contains an entry for this variant (Variation ID: 469466). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.4997_4999del, results in the deletion of 1 amino acid(s) of the RANBP2 protein (p.Glu1666del), but otherwise preserves the integrity of the reading frame.

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