Case10: Female, 18 years diagnosis, China, Asian

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePresentingHPOs: HP:0001639, HP:0001667, HP:0001279, HP:0004756 (Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Syncope, Ventricular tachycardia)

HPOsFreeText: 2 SCD risk factors, NYHA class is II, Right ventricular wall thickness 14.3 mm

CaseNotHPOs: HP:0002092, HP:0001642, HP:0030680 (Pulmonary arterial hypertension, Pulmonary stenosis, Congenital heart disease)

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CaseGenotypingMethod: Probands' genomic DNA was extracted from blood samples. WES was performed, with the resulting sequence data mapped to a reference genome and variants filtered for pathogenicity and predicted effects. All variants identified were confirmed via Sanger sequencing of the respective genes.

Variant: NM_000257.3:c.1357C>T (p.Arg453Cys)

ClinVar: 14089 https://www.ncbi.nlm.nih.gov/clinvar/variation/14089/

gnomAD: Not in gnomAD

MultipleGeneVariants:

AKAP9 Variant:

Variant: NM_005751.4:c.3316C>G (p.Gln1106Glu)

CAID: CA368126817 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_005751.4:c.3316C%3EG

gnomAD: Not in gnomAD