ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn)

gnomAD frequency: 0.00001  dbSNP: rs778799923
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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 RCV000816203 SCV000956700 uncertain significance Familial acute necrotizing encephalopathy 2019-04-02 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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 lysine with asparagine at codon 99 of the RANBP2 protein (p.Lys99Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.

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