Cure GM1 Foundation | May 2026
Description
A comprehensive open-access catalog of GLB1 genetic variants ever assembled.
The Cure GM1 Foundation has released the GLB1 Variant Catalog, a rigorously curated, freely downloadable reference that consolidates publicly sourced known variant from across the world’s major genetic databases and GLB1 published literature. It is designed to serve families, clinicians, genetic counselors, and researchers navigating the complex landscape of GM1 gangliosidosis genetics.
What’s in the Catalog? 1,295 variants drawn from eight data sources
- ClinVar: the primary public repository for clinical variant interpretations
- LOVD: the Leiden Open Variation Database, capturing European and academic submission
- gnomAD v4: population-level allele frequency data from over 700,000 individuals
- NTSAD: the National Tay-Sachs and Allied Diseases Association registry
- OMIM: published disease gene allelic variants\
- Published literature: Santamaria 2006, Bidchol 2015, Hofer 2009, Caciotti 2005/2003 and others
- Cure GM1 PIN: patient-identified variants from our Patient Insights Network at LabCorp
- 2025 WORLD Symposium: real-world cohort data from approximately 26 GM1 participants from a collaboration with AllStripes
Every variant is annotated with its cDNA and protein change, chromosomal location (exon or intron), pathogenicity classification, gnomAD population frequency, supporting literature references (PMIDs), and a direct link to its ClinVar record.
Pathogenicity Breakdown
| Classification | Count | Share |
|---|---|---|
| Pathogenic | 122 | 9.4% |
| Likely Pathogenic | 128 | 9.9% |
| Pathogenic / Likely Pathogenic | 79 | 6.1% |
| Classification | Count | Share |
|---|---|---|
| Conflicting | 54 | 4.2% |
| Variant of Uncertain Significance (VUS) | 248 | 19.2% |
| Likely Benign | 525 | 40.5% |
| Benign | 61 | 4.7% |
| Not Classified | 78 | 6.0% |
What Makes It Unique?
24 variants observed in the 2025 WORLD Symposium GM1 cohort come from real-world patient data. These data are and flagged in amber across all formats, making it immediately visible which variants are actively found in living patients.
All location annotations follow Ensembl Exon boundaries corrected to current genomic coordinates. ENST00000307363.10 (GRCh38), correcting systematic off-by-one errors found in older literature and databases.
A clinical expert review identified 34 PMIDs that had been incorrectly Unreliable citations removed. associated with GLB1 variants through automated ClinVar scraping. All have been removed.
The catalog is available as a PDF reference document (organized by pathogenicity), an Excel spreadsheet (sorted by cDNA position for easy lookup), and a CSV file for computational use.
Who Is This For?
• Families and patients who want to look up their own variant in a clear, organized reference
• Genetic counselors preparing for sessions with GM1 families
• Clinicians managing patients with a new or unconfirmed GLB1 variant
• Researchers and biotech companies studying GM1, designing clinical trials, or developing therapies
• Natural history investigators characterizing the mutation spectrum
Downloads
• GLB1 Variant Catalog v1.0 (PDF)
• GLB1 Variant Catalog v1.0 (Excel Spreadsheet)
• GLB1 Key Insights Report v1.0 (PDF)
Note:
This catalog is not a diagnostic tool. This catalog is provided for informational and research purposes only. Variant interpretations reflect database submissions as of May 2026 and may not reflect the most current clinical classification. Consult a qualified genetic counselor or medical geneticist for interpretation of any variant in a clinical context.
Nomenclature follows NM_000404.4. Exon boundaries from Ensembl ENST00000307363.10 (GRCh38). Pathogenicity classifications sourced from ClinVar aggregate germline classifications. Questions or corrections: info@curegm1.org