ClinVar Miner

Submissions for variant NC_000005.9:g.(?_161309544)_(161309727_?)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 RCV003105336 SCV003794363 pathogenic Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GABRA1 protein in which other variant(s) (p.Arg214His) have been determined to be pathogenic (PMID: 27353043). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with GABRA1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the GABRA1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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