Case3: Male, 53 yrs diagnosis, Portugal

DiseaseAssertion: Dilated Cardiomyopathy

FamilyInfo: No family history

CasePresentingHPOs: HP:0001644, HP:0001635, HP:0011675, HP:0011713, HP:0012665, HP:0031192 (Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Left bundle branch block, Moderately reduced ejection fraction, Abnormal morphology of left ventricular trabeculae)

HPOsFreeText: Left ventricular end-diastolic diameter of 56 mm

CaseNotHPOs: HP:0002540, HP:0011706, HP:0001709, HP:0006682 (Inability to walk, Second degree atrioventricular block, Third degree atrioventricular block, Premature ventricular contractions)

NotHPOsFreeText: N/A

CasePreviousTesting: Proband has been studied before as part of FATIMA with general clinical assessment and cardiological investigations as well as exclusion criteria subject there. Tested genes include: LMNA, MYH7, MYBPC3, TNNT2, ACTA1, TPM1, CSRP3, TCAP, SGCD, PLN, MYL2, MYL3, TNNI3, TAZ, LDB3.

CaseGenotypingMethod: Blood samples were obtained and NGS was performed on a panel of 15 different genes covering the coding sequence and flanking exon/intron boundaries. Sanger sequencing was used to validate the variants and provide additional coverage. Variants were interpreted and filtered for pathogenicity.

CaseAddInfo: More info in 19044174 but paper is unavailable at this time

Variant: NM_000257.3:c.5623G>T (p.Val1875Phe)

CAID: CA389034842 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.5623G%3ET

gnomAD: Not in gnomAD