Case: Pedigree 5 proband, 28yo at diagnosis, Turkish-Jewish

CasePresentingHPOs: HP:0001639, HP:0001645, HP:0001712, HP:0001279, HP:0001653 (hypertrophic cardiomyopathy, sudden cardiac death, left ventricular hypertrophy, syncope, mild mitral regurgitation)

HPOsFreeText: clinical severity: asymptomatic, LVOT obstruction, anterior septal thickness of 16 mm with dynamic obstruction, normal EF of 60%, asymmetrical hypertrophy on MRI, septal wall thickness of 25 mm, normal sinus rhythm, ventricular premature beats

CaseNotHPOs:

NotHPOsFreeText: skeletal involvement

CasePreviousTesting: exact genes sequenced not specified

CaseGenotypingMethod: NGS (Health in Code, commercial 7-gene panel), contains genes known to cause HCM

Variant: NM_000257.4:c.2605C>T (p.Arg869Cys)

CAID: CA012714, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA012714

gnomAD: n/a

MultipleGeneVariants:

(1) MYL2 Variant:

Variant: NM_000432.3(MYL2):c.304G>A (p.Ala102Thr)

ClinVar: 626792, https://www.ncbi.nlm.nih.gov/clinvar/variation/626792/

gnomAD: 0.00001193, https://gnomad.broadinstitute.org/variant/12-111351099-C-T

FamilyInfo: no family history of cardiomyopathy, maternal grandfather died suddenly at 52yo