ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1087del (p.Arg363fs)

dbSNP: rs1765186475
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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 RCV001215295 SCV001387031 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GABRG2 protein in which other variant(s) (p.Trp429*) have been determined to be pathogenic (PMID: 18566737, 23720301). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 944808). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg363Glyfs*29) in the GABRG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 105 amino acid(s) of the GABRG2 protein.

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