ClinVar Miner

Submissions for variant NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)

gnomAD frequency: 0.00001  dbSNP: rs763428520
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255888 SCV000321953 uncertain significance not provided 2024-07-18 criteria provided, single submitter clinical testing Apparently de novo variant in a patient with developmental and epileptic encephalopathy in published literature (PMID: 30737342); Observed in an individual referred for genetic testing at GeneDx who also had a different genetic etiology for the phenotype; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35350397, 37066095, 35982159, 33057194, 30737342)
Labcorp Genetics (formerly Invitae), Labcorp RCV001086762 SCV000836487 likely benign Generalized epilepsy with febrile seizures plus, type 9 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266669 SCV001444846 uncertain significance Inborn genetic diseases 2022-04-19 criteria provided, single submitter clinical testing The c.845T>C (p.I282T) alteration is located in coding exon 10 of the STX1B gene. This alteration results from a T to C substitution at nucleotide position 845, causing the isoleucine (I) at amino acid position 282 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Leipzig Medical Center RCV001086762 SCV001934284 uncertain significance Generalized epilepsy with febrile seizures plus, type 9 2020-10-30 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001086762 SCV002581764 uncertain significance Generalized epilepsy with febrile seizures plus, type 9 2022-08-24 criteria provided, single submitter clinical testing
Pediatrics, MediClubGeorgia RCV001086762 SCV005050146 likely pathogenic Generalized epilepsy with febrile seizures plus, type 9 criteria provided, single submitter research
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000255888 SCV005196854 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967693 SCV004782183 uncertain significance STX1B-related disorder 2024-03-26 no assertion criteria provided clinical testing The STX1B c.845T>C variant is predicted to result in the amino acid substitution p.Ile282Thr. This variant was reported de novo in an individual with STX1B-related disease (Wolking et al. 2019. PubMed ID: 30737342). This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD, and It has conflicting interpretations in ClinVar, including likely benign and uncertain significance. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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