ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)

gnomAD frequency: 0.00003  dbSNP: rs752621588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226146 SCV001398446 likely benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398970 SCV004104581 uncertain significance GABRG2-related condition 2023-04-12 criteria provided, single submitter clinical testing The GABRG2 c.394A>T variant is predicted to result in the amino acid substitution p.Ile132Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-161524710-A-T). Although we suspect that this variant may be benign, 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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