Case1: 44 year old male

DiseaseAssertion: Dilated cardiomyopathy

FamilyInfo: Affected brother, two sisters and both parents unaffected, parents denied consanguinity and were assumed to be second cousins

CasePresentingHPOs: HP:0003704, HP:0009060, HP:0000218, HP:0000276, HP:0000819, HP:0003691

"Scapuloperoneal weakness, scapular muscle atrophy, high palate, long face, Diabetes mellitus, Scapular winging

CaseHPOFreeText: decreased cardiac systolic function, clinical symptoms of cardiac failure at 44 years old, left ventricular systolic and diastolic dysfunction, exertional dyspnoea, ymmetrical wasting of the sternocleidomastoideus, trapezius, supraspinatus, pectoralis, deltoid, triceps, biceps, paravertebral and tibialis muscles at age 56

CasePreviousTesting:

GenotypingMethod: genome scan using 730,000 single nucleotide polymorphism (SNP) markers. Sequence analysis for the last four MYH7 exons

Variant: NM_000257.4:c.5458C>T

ClinVar: 181282

CAID: CA016126

gnomAD: https://gnomad.broadinstitute.org/variant/14-23884305-G-A

0.00008011 African