ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6275C>T (p.Thr2092Met)

gnomAD frequency: 0.00001  dbSNP: rs760931362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060674 SCV001225378 uncertain significance Familial acute necrotizing encephalopathy 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 2092 of the RANBP2 protein (p.Thr2092Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. 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 variant has not been reported in the literature in individuals with RANBP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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