A37G (p.Ala37Gly) variant of TNNT2 (Troponin T, cardiac muscle)
A37G (p.Ala37Gly) 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 Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and published literature.
A37G (p.Ala37Gly) variant details
- p.Ala37Gly
- rs776406819
- ClinGen CA089208
- ClinVar RCV000700417
- ClinVar RCV000781910
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 8.36
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)