G38S (p.Gly38Ser) variant of LAMA2 (Laminin subunit alpha-2)
G38S (p.Gly38Ser) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Merosin deficient congenital muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- rs2482367554
- ClinGen CA365828372
- ClinVar RCV003990106
- Uncertain significance
- Merosin deficient congenital muscular dystrophy
- Missense
- REVEL 0.21
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Merosin deficient congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)
- Cited in: Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders. (PMID 22420014)