I2761T (p.Ile2761Thr) variant of LAMA2 (Laminin subunit alpha-2)
I2761T (p.Ile2761Thr) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of LAMA2-related muscular dystrophy; not provided; Congenital muscular dystrophy du. The record also includes variant effect predictions, population frequency data, and published literature.
I2761T (p.Ile2761Thr) variant details
- p.Ile2761Thr
- rs115650537
- ClinGen CA051962
- ClinVar RCV000170437
- ClinVar RCV000591454
- Conflicting interpretations
- LAMA2-related muscular dystrophy; not provided; Congenital muscular dystrophy du
- Missense
- REVEL 0.03
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (LAMA2-related muscular dystrophy; not provided; Congenital muscu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)