M45I (p.Met45Ile) variant of TNNC1 (P63316)
M45I (p.Met45Ile) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1Z. The record also includes published literature and structural context.
M45I (p.Met45Ile) variant details
- p.Met45Ile
- rs2471444636
- ClinGen CA353168797
- ClinVar RCV003486530
- ClinVar RCV005406043
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1Z
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1Z)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)