M1T (p.Met1Thr) variant of LAMA2 (Laminin subunit alpha-2)
M1T (p.Met1Thr) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle. The record also includes variant effect predictions, population frequency data, and published literature.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs374403765
- ClinGen CA147234456
- ClinVar RCV000532735
- ClinVar RCV000672881
- Pathogenic/Likely pathogenic
- Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle
- Missense
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Merosin deficient congenital muscular dystrophy; Muscular dystro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)