ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7918C>A (p.Pro2640Thr)

dbSNP: rs762433464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591655 SCV001815674 uncertain significance Familial acute necrotizing encephalopathy 2020-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001591655 SCV002306775 uncertain significance Familial acute necrotizing encephalopathy 2020-11-26 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 (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. This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is present in population databases (rs762433464, ExAC 0.03%). This sequence change replaces proline with threonine at codon 2640 of the RANBP2 protein (p.Pro2640Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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