ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs)

dbSNP: rs1574897036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003444692 SCV000960006 pathogenic Epilepsy with myoclonic atonic seizures 2021-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser175Tyrfs*32) in the SLC6A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC6A1-related conditions. Loss-of-function variants in SLC6A1 are known to be pathogenic (PMID: 25865495). For these reasons, this variant has been classified as Pathogenic.

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