ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3149A>T (p.Gln1050Leu)

gnomAD frequency: 0.00009  dbSNP: rs768450419
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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 RCV001327349 SCV001518422 uncertain significance Familial acute necrotizing encephalopathy 2023-08-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1026842). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs768450419, gnomAD 0.008%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1050 of the RANBP2 protein (p.Gln1050Leu).

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