G284R (p.Gly284Arg) variant of LAMA2 (Laminin subunit alpha-2)
G284R (p.Gly284Arg) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
G284R (p.Gly284Arg) variant details
- p.Gly284Arg
- UniProt VAR 081615
- Likely pathogenic
- Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle
- Missense
- REVEL 0.78
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Merosin deficient congenital muscular dystrophy; Muscular dystro)
- EBI: Pathogenic (in LGMDR23)
- UniProt: Pathogenic (in LGMDR23)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. (PMID 21953594)
- Cited in: Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. (PMID 24957499)