ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7471G>C (p.Ala2491Pro)

dbSNP: rs758152724
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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 RCV001036183 SCV001199534 uncertain significance Familial acute necrotizing encephalopathy 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 2491 of the RANBP2 protein (p.Ala2491Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 835328). 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 tolerated. 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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