ClinVar Miner

Submissions for variant NC_000016.9:g.(?_7726832)_(7839608_?)del

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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 RCV004581574 SCV005066903 uncertain significance Idiopathic generalized epilepsy 2023-10-31 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 11 and exons 12-13 (c.1050_*78861del) of the RBFOX1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with RBFOX1-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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