Submissions for variant NM_000814.6(GABRB3):c.1269C>G (p.His423Gln)

gnomAD frequency: 0.00004  dbSNP: rs76962261

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458912	SCV000550358	likely benign	Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001643172	SCV001858136	benign	not provided	2021-04-08	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224288	SCV003919995	likely benign	Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43	2022-09-28	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.04% (7/15278) (https://gnomad.broadinstitute.org/variant/15-26547946-G-C?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Likely benign or Benign (Variation ID:409960). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003942491	SCV004761956	likely benign	GABRB3-related disorder	2024-08-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).