Developmental and epileptic encephalopathy, 85, with or without midline brain defects: genes and variants
Explore variant evidence for Developmental and epileptic encephalopathy, 85, with or without midline brain defects across 1 analyzed protein (SMC1A). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 21 variants of uncertain significance and 4 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
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Genes linked to Developmental and epileptic encephalopathy, 85, with or without midline brain defects
SMC1A: Structural maintenance of chromosomes protein 1A
A core cohesin protein that helps hold sister chromatids together and organize DNA. Variants can cause Cornelia de Lange syndrome or developmental epilepsy.
4 ClinVar pathogenic / likely pathogenic and 25 uncertain variants in SMC1A have source records linked to Developmental and epileptic encephalopathy, 85, with or without midline brain defects. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Developmental and epileptic encephalopathy, 85, with or without midline brain defects
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMC1A R496C | 496 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| SMC1A R711Q | 711 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| SMC1A E1040K | 1040 | Coiled coil | Pathogenic / likely pathogenic (★) |
| SMC1A R895G | 895 | Coiled coil | Pathogenic / likely pathogenic |
Same protein, different disease
- Congenital muscular hypertrophy-cerebral syndrome also has ClinVar records linked to SMC1A variants; they fall mostly in different places as the Developmental and epileptic encephalopathy, 85, with or without midline brain defects variants (39 pathogenic / likely pathogenic).
Diseases related to Developmental and epileptic encephalopathy, 85, with or without midline brain defects
- Cornelia de Lange syndrome, also linked to SMC1A
- Congenital muscular hypertrophy-cerebral syndrome, also linked to SMC1A
- Genetic developmental and epileptic encephalopathy, also linked to SMC1A
Frequently asked questions
Which genes have records linked to Developmental and epileptic encephalopathy, 85, with or without midline brain defects?
This view contains 1 analyzed proteins: SMC1A. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 4 pathogenic or likely pathogenic variants, 21 variants of uncertain significance and 4 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 30 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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