ClinVar Miner

Submissions for variant NC_000002.11:g.(?_109368307)_(109370039_?)dup

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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 RCV003109474 SCV003791450 uncertain significance Familial acute necrotizing encephalopathy 2023-11-02 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 12-14 of the RANBP2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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 has not been reported in the literature in individuals affected with RANBP2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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