ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)

dbSNP: rs1755409878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215328 SCV001387066 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398950 SCV004120952 uncertain significance GABRA1-related disorder 2022-10-19 criteria provided, single submitter clinical testing The GABRA1 c.1192A>G variant is predicted to result in the amino acid substitution p.Lys398Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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