ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter)

dbSNP: rs1755420995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305094 SCV001494408 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2020-10-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GABRA1 gene (p.Gln456*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the GABRA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GABRA1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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