SVAD

SVAD aggregates and annotates genetic variants associated with non-ischemic sudden cardiac death (SCD) to support interpretation of variants implicated in inherited cardiac diseases (ICDs).

Key Features:

• Scope: Aggregates data on genetic variants linked to various types of inherited cardiac diseases (ICDs) known to cause non-ischemic sudden cardiac death (SCD).
• Curation: Variant entries were manually curated from the scientific literature.
• Content size: Contains 2,292 entries covering 1,239 distinct variants.
• Pathogenicity annotation: Approximately one-third of variants are classified as pathogenic or likely-pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines.
• Data integration: Integrates information about variant effects on inherited cardiac diseases to facilitate variant interpretation.

Scientific Applications:

• Variant interpretation: Supports interpretation of genetic variants associated with SCD and related inherited cardiac diseases.
• Clinical genetics: Informs clinical decision-making and risk prediction for inherited cardiac diseases through curated variant annotations.
• Research on SCD genetics: Consolidates literature-derived variant evidence to support research into the genetic underpinnings of sudden cardiac death.

Methodology:

Manual curation of scientific literature to extract and annotate variant information; variants were classified using American College of Medical Genetics and Genomics (ACMG) guidelines.