ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4473A>G (p.Gln1491=)

gnomAD frequency: 0.00001  dbSNP: rs370666741
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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 RCV001369042 SCV001565470 uncertain significance Familial acute necrotizing encephalopathy 2020-10-08 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is present in population databases (rs370666741, ExAC 0.004%). This sequence change affects codon 1491 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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