ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis)

dbSNP: rs1755416915
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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 RCV001246595 SCV001419959 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2019-08-21 criteria provided, single submitter clinical testing This variant, c.1321_1324delinsC, is a complex sequence change that results in the deletion of 2 amino acids and the insertion of 1 amino acid in the GABRA1 protein (p.Thr441_Tyr442delinsHis). 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with GABRA1-related conditions. This variant is not present in population databases (ExAC no frequency).

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