Megalencephalic leukoencephalopathy with subcortical cysts: genes and variants
Megalencephalic leukoencephalopathy with subcortical cysts is linked to 1 analyzed protein (MLC1). 3 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Megalencephalic leukoencephalopathy with subcortical cysts 1
Genes linked to Megalencephalic leukoencephalopathy with subcortical cysts
MLC1: Membrane protein MLC1
A multi-pass membrane protein found mainly in brain astrocytes. It may support transport at the blood-brain and brain-cerebrospinal-fluid barriers and helps astrocytes respond to osmotic changes, while MLC1 disruption causes megalencephalic leukoencephalopathy with subcortical cysts.
3 disease-causing and 2 uncertain variants in MLC1 are linked to Megalencephalic leukoencephalopathy with subcortical cysts.
Known disease-causing variants in Megalencephalic leukoencephalopathy with subcortical cysts
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MLC1 A120V | 120 | Transmembrane | Disease-causing (★★) |
| MLC1 A157E | 157 | Transmembrane | Disease-causing (★★) |
| MLC1 A275D | 275 | Transmembrane | Disease-causing (★★) |
Frequently asked questions
Which genes are linked to Megalencephalic leukoencephalopathy with subcortical cysts?
In CATVariant, Megalencephalic leukoencephalopathy with subcortical cysts is linked to 1 analyzed protein: MLC1 (Membrane protein MLC1).
How many genetic variants are linked to Megalencephalic leukoencephalopathy with subcortical cysts?
6 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Megalencephalic leukoencephalopathy with subcortical cysts look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center