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Cardiovascular

Not a medical test — for research and educational use only

Yeliztli analyses consumer genotyping-array data (23andMe / AncestryDNA), which is not a clinical-grade test. Results are not diagnostic, are not clinically validated, and must not be used to make medical decisions. Array data is especially unreliable for rare, disease-causing variants. Always confirm any finding with an accredited clinical laboratory and discuss it with a qualified clinician or genetic counsellor before acting on it. See the Intended use & disclaimers page for the details and the evidence behind this warning.

The cardiovascular module screens a 16-gene panel for pathogenic variants linked to inherited heart and lipid conditions, and summarises familial-hypercholesterolemia status.

What it looks at

  • Familial hypercholesterolemia (FH): LDLR, and FH-causing PCSK9 and APOB variants
  • Other lipid metabolism: LPA, ABCG5, ABCG8, and APOB findings scoped to low-LDL conditions, including protein-truncating variants linked to familial hypobetalipoproteinemia, and PCSK9 nonsense and frameshift variants
  • Channelopathies (arrhythmia syndromes): KCNQ1, SCN5A, KCNH2, RYR2
  • Cardiomyopathies: MYBPC3, MYH7, TNNT2, LMNA, DSP, PKP2

What you'll see

  • Per-variant findings — ClinVar Pathogenic/Likely-Pathogenic variants with review stars, accession, inheritance pattern, an evidence rating, and the relevant cardiovascular category. ClinVar lower-penetrance/risk-allele findings are stored under a distinct findings category from high-penetrance P/LP variants, although the current page displays both categories together.1
  • An FH status summary — Positive or Negative, listing the affected genes and the strongest evidence found.

For recessive conditions, you're told whether you're a carrier or affected, based on how many copies you carry.

Good to know

  • A negative result doesn't exclude these conditions — the panel types specific variants, not full gene sequences.
  • APOB is bidirectional. APOB findings with low-LDL-only ClinVar labels—and protein-truncating APOB variants linked to familial hypobetalipoproteinemia even when ClinVar labels aggregate both directions—are reported under Other lipid metabolism and excluded from FH status. Other APOB findings follow the module's existing FH criteria, including its ClinVar condition-label and lower-penetrance/risk-allele filters. This distinction is supported by human genetic studies (PMID:30939045; DOI:10.1161/CIRCGEN.118.002376 (accessed 2026-07-31); PMID:36723951; DOI:10.1001/jamacardio.2022.5271 (accessed 2026-07-31)).
  • PCSK9 is bidirectional too. FH-causing PCSK9 variants act by gain of function, so PCSK9 nonsense and frameshift variants are reported under Other lipid metabolism and excluded from FH status, even when ClinVar labels them as FH. Other PCSK9 findings follow the module's existing FH criteria. Human genetic studies associate nonsense and frameshift PCSK9 variants with low LDL cholesterol: nonsense variants (PMID:15654334; DOI:10.1038/ng1509 (accessed 2026-10-11); PMID:16989838; DOI:10.1016/j.atherosclerosis.2006.08.039 (accessed 2026-10-11)), a frameshift variant (PMID:17170371; DOI:10.1161/01.ATV.0000255311.26383.2f (accessed 2026-10-11)), and protein-truncating variants as a class (PMID:36723951; DOI:10.1001/jamacardio.2022.5271 (accessed 2026-10-11)). PCSK9 splice-site variants keep the existing FH criteria: studies count only splice changes that a stricter loss-of-function filter accepts, and a splice annotation alone does not show that.
  • The dedicated familial-hypercholesterolemia view builds on these findings and adds an LDL-C polygenic score for a fuller FH picture.

  1. Schmidt RJ, et al. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in Medicine. 2024;26(3):101036. PMID:38054408; DOI:10.1016/j.gim.2023.101036 (accessed 2026-07-31). ↩