ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)

dbSNP: rs2124924957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003444962 SCV002208436 pathogenic Epilepsy with myoclonic atonic seizures 2022-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp285*) in the SLC6A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC6A1 are known to be pathogenic (PMID: 25865495). 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: 1439096). For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003444962 SCV004099255 likely pathogenic Epilepsy with myoclonic atonic seizures 2023-07-28 criteria provided, single submitter clinical testing PVS1, PM2

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