ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5892dup (p.Asp1965fs)

dbSNP: rs772295809
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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 RCV001983659 SCV002275078 uncertain significance Familial acute necrotizing encephalopathy 2020-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1965Argfs*21) in the RANBP2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RANBP2 cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RANBP2-related conditions. 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.

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