A19G (p.Ala19Gly) variant of TNNT2 (Troponin T, cardiac muscle)
A19G (p.Ala19Gly) 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 provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs753645200
- ClinGen CA030513
- ClinVar RCV001920725
- ClinVar RCV005762423
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 9.26
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)