R622P (p.Arg622Pro) variant of TSC2 (Tuberin)
R622P (p.Arg622Pro) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lymphangiomyomatosis; Tuberous sclerosis 2; Isolated focal cortical dysplasia ty. The record also includes population frequency data, published literature, and structural context.
R622P (p.Arg622Pro) variant details
- p.Arg622Pro
- rs45517206
- ClinGen CA016103
- ClinVar RCV000043040
- ClinVar RCV000713916
- Pathogenic
- Lymphangiomyomatosis; Tuberous sclerosis 2; Isolated focal cortical dysplasia ty
- Missense
- ClinVar: Pathogenic (Lymphangiomyomatosis; Tuberous sclerosis 2; Isolated focal corti)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)