Case3: Female, 57 years diagnosis, China, Asian

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePresentingHPOs: HP:0001639, HP:0001667, HP:0005110, HP:0004756, HP:0001279 (Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Atrial fibrillation, Ventricular tachycardia, Syncope)

HPOsFreeText: 2 SCD risk factors, NYHA class is III, Right ventricular wall thickness 11.5 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.1955G>C (p.Arg652Thr)

CAID: CA389049460 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000257.3:c.1955G%3EC

gnomAD: Not in gnomAD

MultipleGeneVariants:

MYH6 Variant:

Variant: NM_002471.3:c.35C>T (p.Ala12Val)

ClinVar: 537952 https://www.ncbi.nlm.nih.gov/clinvar/variation/537952/

gnomAD: African 6.152e-5, Overall 7.954e-6 https://gnomad.broadinstitute.org/variant/14-23876398-G-A