R1508K (p.Arg1508Lys) variant of LAMA2 (Laminin subunit alpha-2)
R1508K (p.Arg1508Lys) 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, population frequency data, and published literature.
R1508K (p.Arg1508Lys) variant details
- p.Arg1508Lys
- rs770084568
- ClinGen CA3993578
- ClinVar RCV000483171
- ClinVar RCV000984190
- Pathogenic/Likely pathogenic
- LAMA2-related muscular dystrophy; Merosin deficient congenital muscular dystroph
- Missense
- REVEL 0.28
- CADD 36.00
- PolyPhen-2 0.89
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (LAMA2-related muscular dystrophy; Merosin deficient congenital m)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)