ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5092A>G (p.Thr1698Ala)

dbSNP: rs1677063662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045242 SCV001209080 uncertain significance Familial acute necrotizing encephalopathy 2019-01-29 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 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. This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 1698 of the RANBP2 protein (p.Thr1698Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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