D41N (p.Asp41Asn) variant of TNNT2 (Troponin T, cardiac muscle)
D41N (p.Asp41Asn) 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; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs748078123
- ClinGen CA089237
- ClinVar RCV001176828
- ClinVar RCV001237160
- Conflicting interpretations
- Cardiomyopathy; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Dilated cardiomyopathy 1D; Cardiomyopathy, famil)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)