ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys)

gnomAD frequency: 0.00001  dbSNP: rs368434436
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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 RCV000646016 SCV000767772 uncertain significance Familial acute necrotizing encephalopathy 2022-03-19 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. ClinVar contains an entry for this variant (Variation ID: 537221). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs368434436, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2831 of the RANBP2 protein (p.Ser2831Cys).

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