ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3170C>T (p.Pro1057Leu)

gnomAD frequency: 0.00008  dbSNP: rs150151795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046512 SCV001210417 uncertain significance Familial acute necrotizing encephalopathy 2020-10-22 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 C15"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is present in population databases (rs150151795, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This sequence change replaces proline with leucine at codon 1057 of the RANBP2 protein (p.Pro1057Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.
CeGaT Center for Human Genetics Tuebingen RCV003456467 SCV004183765 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RANBP2: BP4

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