LGALS1
Chr 22galectin 1
Also known as: GAL1, GBP
Galectin-1 is a lectin that binds beta-galactoside and complex carbohydrates, regulating apoptosis, cell proliferation, and T-cell immune responses. Biallelic mutations cause autosomal recessive facioscapulohumeral muscular dystrophy with early childhood onset affecting facial, shoulder, and upper arm muscles. The gene shows low constraint to loss-of-function variants, consistent with recessive inheritance requiring mutations in both copies.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
54 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 19 | 2 | 0 | 21 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 0 | 20 | 21 | 0 | 42 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LGALS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Brentuximab Vedotin and Nivolumab With or Without Ipilimumab in Treating Patients With Relapsed or Refractory Hodgkin Lymphoma
ACTIVE NOT RECRUITINGVideomicroscopy for the Prediction of Bleeding in Constitutional Haemorrhagic Diseases
RECRUITINGAdaptive Mechanisms In GRown up ObeSity Study (AMIGROS)
RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools