ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7795T>C (p.Ser2599Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577187 SCV005061083 uncertain significance Familial acute necrotizing encephalopathy criteria provided, single submitter clinical testing The missense variant c.7795T>C (p.Ser2599Pro) in the RANBP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0008%) in the gnomAD Exomes. The amino acid Serine at position 2599 is changed to a Proline changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Ser2599Pro in RANBP2 is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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