ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4105del (p.Ala1369fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003455875 SCV004177110 uncertain significance Familial acute necrotizing encephalopathy 2023-10-24 criteria provided, single submitter clinical testing The RANBP2 c.4105del (p.Ala1369LeufsTer10) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant causes a frameshift by deleting a single nucleotide, leading to a premature termination codon, which is predicted to lead to nonsense mediated decay. Due to limited information, the clinical significance of this variant is uncertain.

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