M1I (p.Met1Ile) variant of TNNT2 (Troponin T, cardiac muscle)
M1I (p.Met1Ile) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1289914935
- ClinGen CA344209130
- ClinVar RCV000656211
- ClinVar RCV001508034
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- MetaLR 0.27
- MetaSVM -0.48
- SIFT 0.00
- MutPred 0.91
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)