ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.544+3G>T

gnomAD frequency: 0.00003  dbSNP: rs377463653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092401 SCV001248897 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873454 SCV002228406 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-12-30 criteria provided, single submitter clinical testing 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. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 872113). This variant has been observed in individuals with clinical features of GABRB3-related conditions (Invitae). This variant is present in population databases (rs377463653, gnomAD 0.002%). This sequence change falls in intron 5 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.

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