Y168* (p.Tyr168Ter) variant of SCN5A (Q14524)

Name: SCN5A Y168* (p.Tyr168Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

Y168* (p.Tyr168Ter) in SCN5A (Q14524) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.

Y168* (p.Tyr168Ter) variant details

p.Tyr168Ter
rs1435536418
ClinGen CA352153950
ClinVar RCV003492863
Likely pathogenic
Stop Gained
EBI: Likely pathogenic
UniProt: Likely pathogenic
Structural context available
Cited in: Brugada Syndrome. (PMID 20301690)
Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)