LAMA2-related muscular dystrophy: genes and variants
LAMA2-related muscular dystrophy is linked to 1 analyzed protein (LAMA2). 11 DNA variants are known to cause it; 1,101 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to LAMA2-related muscular dystrophy
LAMA2: Laminin subunit alpha-2
It links cells to surrounding extracellular matrix through dystroglycan and integrins. Biallelic loss-of-function variants cause LAMA2-related muscular dystrophy, ranging from severe congenital disease to later-onset limb-girdle weakness.
11 disease-causing and 1,101 uncertain variants in LAMA2 are linked to LAMA2-related muscular dystrophy.
Where LAMA2-related muscular dystrophy variants cluster
- LAMA2 Laminin G-like 4 (positions 2763–2934): 3 of 11 disease-causing changes, 5.0× more than its size predicts.
Known disease-causing variants in LAMA2-related muscular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LAMA2 H2848Q | 2848 | Laminin G-like 4 | Disease-causing (★★) |
| LAMA2 C1079R | 1079 | Laminin EGF-like 12 | Disease-causing (★★) |
| LAMA2 R1508K | 1508 | Laminin EGF-like 16 | Disease-causing (★★) |
| LAMA2 H2627Q | 2627 | Laminin G-like 3 | Disease-causing (★★) |
| LAMA2 C442W | 442 | Laminin EGF-like 3 | Disease-causing (★) |
| LAMA2 R1508T | 1508 | Laminin EGF-like 16 | Disease-causing (★) |
| LAMA2 C2909R | 2909 | Laminin G-like 4 | Disease-causing (★) |
| LAMA2 D267N | 267 | Laminin N-terminal | Disease-causing (★) |
| LAMA2 C393G | 393 | Laminin EGF-like 2 | Disease-causing (★) |
| LAMA2 T821P | 821 | Laminin EGF-like 7 | Disease-causing (★) |
| LAMA2 G2889E | 2889 | Laminin G-like 4 | Disease-causing (★) |
Which prediction tools work for LAMA2-related muscular dystrophy
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 88 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 86 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 82 out of 100
- CADD: 75 out of 100
- phyloP: 53 out of 100
Same protein, different disease
- Merosin deficient congenital muscular dystrophy is also caused by LAMA2 variants; they fall mostly in different places as the LAMA2-related muscular dystrophy variants (9 disease-causing).
- Muscular dystrophy, limb-girdle, autosomal recessive 23 is also caused by LAMA2 variants; they fall mostly in different places as the LAMA2-related muscular dystrophy variants (4 disease-causing).
Diseases related to LAMA2-related muscular dystrophy
- Congenital muscular dystrophy due to LMNA mutation, also linked to LAMA2
- Muscular dystrophy, also linked to LAMA2
- Merosin deficient congenital muscular dystrophy, also linked to LAMA2
- Muscular dystrophy, limb-girdle, autosomal recessive 23, also linked to LAMA2
Frequently asked questions
Which genes are linked to LAMA2-related muscular dystrophy?
In CATVariant, LAMA2-related muscular dystrophy is linked to 1 analyzed protein: LAMA2 (Laminin subunit alpha-2).
How many genetic variants are linked to LAMA2-related muscular dystrophy?
1,204 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,101 are of uncertain significance or have conflicting reports.
Which uncertain variants in LAMA2-related muscular dystrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for LAMA2-related muscular dystrophy?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.82, based on 11 disease-causing and 76 harmless variants).
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.
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