ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1593C>G (p.Tyr531Ter)

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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 RCV005204050 SCV005841276 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr531*) in the STXBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STXBP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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