D25N (p.Asp25Asn) variant of TNNC1 (P63316)
D25N (p.Asp25Asn) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- rs730881064
- ClinGen CA297340
- NCI-TCGA Cosmic COSV5176
- ClinVar RCV000159205
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.28
- MetaLR 0.65
- MetaSVM 0.43
- PolyPhen-2 0.79
- SIFT 0.04
- EVE 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)