ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)

dbSNP: rs587777310
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440506 SCV000517284 pathogenic not provided 2020-04-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26865513, 24623842)
Labcorp Genetics (formerly Invitae), Labcorp RCV000525775 SCV000633905 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-12-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STXBP1 protein function. ClinVar contains an entry for this variant (Variation ID: 127076). This missense change has been observed in individual(s) with Dravet syndrome and intractable epilepsy (PMID: 24623842, 26865513; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 283 of the STXBP1 protein (p.Glu283Lys).
Molecular Genetics Lab, CHRU Brest RCV000114939 SCV004697773 pathogenic Developmental and epileptic encephalopathy, 4 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000114939 SCV005368421 pathogenic Developmental and epileptic encephalopathy, 4 2024-09-17 criteria provided, single submitter clinical testing Criteria applied: PS2,PS4_MOD,PM1,PM2,PP2,PP3
OMIM RCV000114939 SCV000148837 pathogenic Developmental and epileptic encephalopathy, 4 2014-04-08 no assertion criteria provided literature only
Pediatric Department, Xiangya Hospital, Central South University RCV000114939 SCV001961018 pathogenic Developmental and epileptic encephalopathy, 4 2020-01-09 no assertion criteria provided clinical testing

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