ClinVar Miner

Submissions for variant NC_000005.9:g.(?_161128494)_(161580374_?)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 RCV001381605 SCV001580056 pathogenic Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2020-07-26 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GABRA1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of GABRA1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 22190369, 24811917). Loss-of-function variants in GABRA1 are known to be pathogenic (PMID: 16718694). For these reasons, this variant has been classified as Pathogenic.

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