G92R (p.Gly92Arg) variant of TNNT2 (Troponin T, cardiac muscle)
G92R (p.Gly92Arg) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature.
G92R (p.Gly92Arg) variant details
- p.Gly92Arg
- rs727504255
- ClinGen CA004195
- ClinVar RCV000154228
- ClinVar RCV000159274
- Pathogenic/Likely pathogenic
- not provided; Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.90
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiomyopathy, familial restrictive, 3; Dilated c)
- EBI: Pathogenic
- UniProt: 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)