ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.432A>G (p.Glu144=)

dbSNP: rs915340430
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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 RCV000560523 SCV000646811 uncertain significance Familial acute necrotizing encephalopathy 2021-08-05 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. 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 disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects codon 144 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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