M1V (p.Met1Val) variant of TNNT2 (Troponin T, cardiac muscle)
M1V (p.Met1Val) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive. The record also includes variant effect predictions and published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1228403814
- ClinGen CA344209142
- ClinVar RCV001001994
- ClinVar RCV001044653
- Conflicting interpretations
- not specified; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive
- Missense
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.21
- ClinVar: Conflicting classifications of pathogenicity (not specified; Dilated cardiomyopathy 1D; Cardiomyopathy, famili)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)