ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro)

dbSNP: rs1553485268
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646007 SCV000767762 uncertain significance Familial acute necrotizing encephalopathy 2017-08-20 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with RANBP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 323 of the RANBP2 protein (p.Ala323Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline.

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