ClinVar Miner

Submissions for variant NC_000016.10:g.(?_7653795)_(7664988_?)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 RCV001031335 SCV001194641 uncertain significance Idiopathic generalized epilepsy 2022-10-13 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 9 of the RBFOX1 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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 RBFOX1 cause disease.

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