V21I (p.Val21Ile) variant of TNNT2 (Troponin T, cardiac muscle)
V21I (p.Val21Ile) 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 Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic. The record also includes published literature.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- rs2527137310
- ClinGen CA088307
- ClinVar RCV002584013
- ClinVar RCV005764626
- Uncertain significance
- Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic
- Missense
- ClinVar: Uncertain significance (Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)