ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr)

gnomAD frequency: 0.00001  dbSNP: rs769995347
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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 RCV000691214 SCV000818962 uncertain significance Familial acute necrotizing encephalopathy 2022-10-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 570364). 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. This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs769995347, gnomAD 0.009%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 418 of the RANBP2 protein (p.Asp418Tyr).

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