ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2852C>T (p.Thr951Met)

gnomAD frequency: 0.00011  dbSNP: rs549497956
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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 RCV001061864 SCV001226623 uncertain significance Familial acute necrotizing encephalopathy 2020-10-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs549497956, ExAC 0.009%). 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. This sequence change replaces threonine with methionine at codon 951 of the RANBP2 protein (p.Thr951Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.

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