ClinVar Miner

Submissions for variant NC_000008.10:g.(?_27326832)_(27328595_?)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 RCV001373941 SCV001570688 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2020-02-29 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNA2 cause disease. This variant has not been reported in the literature in individuals with CHRNA2-related conditions. This variant is a gross deletion of the genomic region encompassing exons 2-4 of the CHRNA2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the CHRNA2 gene. This is expected to result in an absent or disrupted protein product.

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