ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter)

dbSNP: rs1841238690
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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 RCV001232299 SCV001404849 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr212*) in the STXBP1 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 STXBP1-related conditions. Loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463).

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