S79T (p.Ser79Thr) variant of TNNT2 (Troponin T, cardiac muscle)
S79T (p.Ser79Thr) 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; Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
S79T (p.Ser79Thr) variant details
- p.Ser79Thr
- rs1298762072
- ClinGen CA344206742
- ClinVar RCV003066466
- ClinVar RCV004009302
- Uncertain significance
- Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)