ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)

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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 RCV002857149 SCV003224832 pathogenic Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GABRA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala327Aspfs*2) in the GABRA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRA1 are known to be pathogenic (PMID: 16718694).

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