ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003444549 SCV004171719 pathogenic Myoclonic-atonic epilepsy 2023-11-27 criteria provided, single submitter clinical testing The variant is absent from healthy controls (gnomAD v2.1.1) and was found in heterozygous state in an affected mother and son. LOF is a known mechanism of SLC6A1-related disease. Another variant at the same genomic position causing a frameshift is classified as pathogenic in ClinVar. Therefore, this variant has been classified as pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV003444549 SCV004242394 pathogenic Myoclonic-atonic epilepsy 2024-01-18 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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