V85M (p.Val85Met) variant of TNNT2 (Troponin T, cardiac muscle)
V85M (p.Val85Met) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature.
V85M (p.Val85Met) variant details
- p.Val85Met
- rs1659529300
- ClinGen CA344206708
- ClinVar RCV001184603
- Ensembl rs1659529300
- Likely pathogenic
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.23
- MetaLR 0.92
- MetaSVM 0.93
- PolyPhen-2 0.11
- SIFT 0.04
- EVE 0.15
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)