APOA5 p.R223C Variant Data from a Chinese Family with Moderate Hypertriglyceridemia

A rare heterozygous APOA5 variant (p.R223C) was identified in a Chinese family, with six carriers showing fasting plasma triglyceride levels above 1.7 mmol/L, reaching up to 4.96 mmol/L. The variant was absent from ClinVar and gnomAD databases and classified as Likely Pathogenic. Hongxia Liu authored this supplementary document, last updated on June 1, 2026.

Use Cases

• Assess the association between a specific APOA5 variant and triglyceride levels based on familial clinical data.
• Perform in silico verification of variant pathogenicity using computational simulation methods described.
• Compare rare variant data against public databases like ClinVar and gnomAD for novelty assessment.
• Study the genetic architecture of moderate hypertriglyceridemia in a family-based cohort.

Strengths

• Includes clinical data for eight family members, with specific triglyceride level measurements up to 4.96 mmol/L.
• Provides detailed molecular characterization including residue conservation analysis and protein structure stability simulation.
• Dataset is openly licensed under CC-BY-4.0.

Limitations

• Dataset is a 4.1 MB DOCX file; the underlying data structure and column definitions are not explicitly provided.
• Row count is unknown, which may limit suitability assessment.
• Data is from a single family study, limiting generalizability.

Provenance

Source

figshare

Collection Method

Whole-exome sequencing and biochemical testing of eight family members.

Freshness

Last updated 2026-06-01 22:02:48; freshness should be verified.

Geography

China