Case2: Female, 14 years report, Netherlands

CasePresentingHPOs: HP:0011663, HP:0011675, HP:0001279, HP:0005135, HP:0001707, HP:0001711, HP:0004308, HP:0001635 (Right ventricular cardiomyopathy, Arrhythmia, Syncope, Abnormal T-wave, Abnormality of the right ventricle, Abnormality of the left ventricle, Ventricular arrhythmia, Congestive heart failure)

HPOsFreeText: Positive EPS inducibility

CaseNotHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

NotHPOsFreeText: ECG Depolarization abnormality, Cardiac transplant

CaseAddInfo:

CasePreviousTesting: No variants were in any of DSP, PKP2, DSG2, DSC2, and JUP. Patients were tested for variants in ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, and TPM1.

CaseGenotypingMethod: 92 patients underwent panel sequencing of the specific genes listed above, and 45 were subject to Whole Exome Sequencing to locate variants. Afterwards, all variants were verified by PCR amplification and Sanger sequencing and filtered for pathogenicity.

Variant: NM_000257.3:c.4499G>A (p.Arg1500Gln)

ClinVar: 180439 https://www.ncbi.nlm.nih.gov/clinvar/variation/180439/

gnomAD: European (Non-Finnish) 2.637e-5, Overall 1.591e-5 https://gnomad.broadinstitute.org/variant/14-23886382-C-T