Table V

Case 902: Italian, Female, 25yo at onset

DiseaseAssertion: HCM

CasePresentingHPOs: HP:0001712, HP:0000821, HP:0006682, HP:0004756 (left ventricular hypertrophy, hypothyroidism, premature ventricular contractions, ventricular tachycardia)

CaseHPOFreeText: maximum left ventricular wall thickness of ≥15 mm, LVWT = 19mm, automatic implantable cardioverter defibrillator, LV ejection fraction = 64%

CasePreviousTesting: echocardiography, Full testing (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1), additional testing: (GLA, LAMP2, PRKAG2), additional genes added with NGS: (TNNC1, MYH6, MYOM1, MYOZ2, ANKRD1, VCL, CALR3, CAV3)

CaseGenotypingMethod: Genomic DNA extracted from peripheral leukocytes, Sanger sequencing (73 samples), Next-gen sequencing (19 samples)

Variant: NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr) written in paper as p.Ile836Thr

ClinVar: 454315, https://www.ncbi.nlm.nih.gov/clinvar/variation/454315/

gnomAD: n/a