ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr)

gnomAD frequency: 0.00001  dbSNP: rs575473077
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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 RCV000693812 SCV000822231 uncertain significance Familial acute necrotizing encephalopathy 2022-02-04 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 572434). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs575473077, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2910 of the RANBP2 protein (p.Ile2910Thr).
Breakthrough Genomics, Breakthrough Genomics RCV004692129 SCV005187853 uncertain significance not provided criteria provided, single submitter not provided

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