ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8183C>T (p.Thr2728Met)

dbSNP: rs778647896
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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 RCV001305371 SCV001494702 uncertain significance Familial acute necrotizing encephalopathy 2020-07-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs778647896, ExAC 0.02%). This sequence change replaces threonine with methionine at codon 2728 of the RANBP2 protein (p.Thr2728Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. 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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