ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2066G>A (p.Arg689Lys)

gnomAD frequency: 0.00003  dbSNP: rs1220611752
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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 RCV001066901 SCV001231924 uncertain significance Familial acute necrotizing encephalopathy 2022-07-19 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 C25"). ClinVar contains an entry for this variant (Variation ID: 860572). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 689 of the RANBP2 protein (p.Arg689Lys).

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