C1079R (p.Cys1079Arg) variant of LAMA2 (Laminin subunit alpha-2)
C1079R (p.Cys1079Arg) 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 LAMA2-related muscular dystrophy; Merosin deficient congenital muscular dystroph. The record also includes variant effect predictions and published literature.
C1079R (p.Cys1079Arg) variant details
- p.Cys1079Arg
- rs1583469739
- ClinGen CA365611762
- ClinVar RCV000987769
- ClinVar RCV001858676
- Pathogenic/Likely pathogenic
- LAMA2-related muscular dystrophy; Merosin deficient congenital muscular dystroph
- Missense
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (LAMA2-related muscular dystrophy; Merosin deficient congenital m)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)