M1V (p.Met1Val) variant of MSH6 (DNA mismatch repair protein Msh6)
M1V (p.Met1Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2103930478
- ClinGen CA346734457
- ClinVar RCV002041099
- ClinVar RCV002423274
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)