ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2038T>C (p.Tyr680His)

gnomAD frequency: 0.00001  dbSNP: rs1201175872
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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 RCV001214074 SCV001385737 uncertain significance Familial acute necrotizing encephalopathy 2023-06-05 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: 943807). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 680 of the RANBP2 protein (p.Tyr680His).

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