A8G (p.Ala8Gly) variant of TNNC1 (P63316)
A8G (p.Ala8Gly) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs267607125
- ClinGen CA353170797
- ClinVar RCV002014274
- gnomAD rs267607125
- Uncertain significance
- Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.45
- MetaLR 0.68
- MetaSVM 0.32
- PolyPhen-2 0.21
- SIFT 0.01
- MutPred 0.52
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z)
- EBI: Pathogenic (in CMH13)
- UniProt: Pathogenic (in CMH13)
- 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)