Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
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, |
RCV000114939 | SCV004697773 | pathogenic | Developmental and epileptic encephalopathy, 4 | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
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, |
RCV000114939 | SCV001961018 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2020-01-09 | no assertion criteria provided | clinical testing |