ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1427-9A>G

dbSNP: rs1698019472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255026 SCV002526228 likely pathogenic not provided 2022-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005058188 SCV003269488 uncertain significance Epilepsy with myoclonic atonic seizures 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the SLC6A1 gene. It does not directly change the encoded amino acid sequence of the SLC6A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC6A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1691620). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV005058188 SCV005417789 likely pathogenic Epilepsy with myoclonic atonic seizures criteria provided, single submitter clinical testing PM2_Supporting+PP3+PM6+PS4_Supporting+PP4

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