I4M (p.Ile4Met) variant of TNNC1 (P63316)
I4M (p.Ile4Met) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dilated cardiomyopathy 1Z. The record also includes published literature and structural context.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- rs1706370994
- ClinGen CA353170893
- ClinVar RCV003315472
- Pathogenic
- Dilated cardiomyopathy 1Z
- Missense
- ClinVar: Pathogenic (Dilated cardiomyopathy 1Z)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation. (PMID 31748410)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)