ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.994del (p.Met332fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital RCV005059598 SCV005088566 likely pathogenic Epilepsy with myoclonic atonic seizures 2024-07-25 criteria provided, single submitter clinical testing This single nucleotide deletion generates a frame shift starting at codon Met332. The new reading frame ends in a STOP codon at position 41, p.(Met332Cysfs*41). It is predicted to be subject to nonsense mediated decay. Loss of function is a known mechanism of disease (gnomAD pLoF: 0.15). This variant is absent from control population (gnomAD v4.1.0), and has not been previously reported. Pathogenic truncating variants both upstream and downstream of this variant have been reported in patients with SLC6A1 -related NDD (PMID: 25865495).

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