M1V (p.Met1Val) variant of SMARCB1 (Q12824)
M1V (p.Met1Val) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SMARCB1-related schwannomatosis; Intellectual disability, autosomal dominant 15. The record also includes variant effect predictions, population frequency data, experimental measurements, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs367768260
- ClinGen CA162159
- ClinVar RCV000122071
- ClinVar RCV000456257
- Conflicting interpretations
- SMARCB1-related schwannomatosis; Intellectual disability, autosomal dominant 15
- Missense
- MetaLR 0.72
- MetaSVM 0.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (SMARCB1-related schwannomatosis; Intellectual disability, autoso)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0875
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)