ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2469A>G (p.Lys823=)

gnomAD frequency: 0.00002  dbSNP: rs763497305
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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 RCV000707390 SCV000836486 uncertain significance Familial acute necrotizing encephalopathy 2022-07-12 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 583133). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 823 of the RANBP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RANBP2 protein.

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