L56V (p.Leu56Val) variant of DICER1 (Endoribonuclease Dicer)
L56V (p.Leu56Val) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition. The record also includes published literature and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- rs2140289070
- ClinGen CA390890098
- ClinVar RCV002025752
- ClinVar RCV004947027
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; DICER1-related tumor pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)