Submissions for variant NM_000814.6(GABRB3):c.172+4A>G

gnomAD frequency: 0.00002  dbSNP: rs752221563

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002039272	SCV002117036	uncertain significance	Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5	2023-11-15	criteria provided, single submitter	clinical testing	This sequence change falls in intron 2 of the GABRB3 gene. It does not directly change the encoded amino acid sequence of the GABRB3 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GABRB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1349798). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
CeGaT Center for Human Genetics Tuebingen	RCV003326589	SCV004033362	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	GABRB3: BP4