ClinVar Miner

Submissions for variant NM_052874.5(STX1B):c.214C>T (p.Gln72Ter)

dbSNP: rs2143677351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963235 SCV002246692 pathogenic Generalized epilepsy with febrile seizures plus, type 9 2022-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln72*) in the STX1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STX1B are known to be pathogenic (PMID: 25362483). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STX1B-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003228041 SCV003924817 likely pathogenic not provided 2022-11-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25362483)

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