T71M (p.Thr71Met) variant of TNNC1 (P63316)
T71M (p.Thr71Met) 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 0.51 / 1. The record also includes published literature and structural context.
T71M (p.Thr71Met) variant details
- p.Thr71Met
- rs1706331809
- ClinGen CA353167606
- ClinVar RCV002418873
- ClinVar RCV004799622
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.28
- MetaLR 0.49
- MetaSVM -0.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)