ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)

dbSNP: rs1755419468
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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 RCV001237384 SCV001410141 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-10-14 criteria provided, single submitter clinical testing 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, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with GABRA1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1354_1356dup, results in the insertion of 1 amino acid(s) to the GABRA1 protein (p.Pro452dup), but otherwise preserves the integrity of the reading frame.

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