ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2241T>G (p.Asn747Lys)

gnomAD frequency: 0.00012  dbSNP: rs757991427
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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 RCV001060652 SCV001225356 uncertain significance Familial acute necrotizing encephalopathy 2019-02-18 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces asparagine with lysine at codon 747 of the RANBP2 protein (p.Asn747Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.

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