ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5311C>G (p.Pro1771Ala)

gnomAD frequency: 0.00004  dbSNP: rs371560504
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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 RCV001304640 SCV001493932 uncertain significance Familial acute necrotizing encephalopathy 2018-02-28 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1771 of the RANBP2 protein (p.Pro1771Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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