CaseDCM-01: Male, 1 year diagnosis, Caucasian, Germany

CasePresentingHPOs: HP:0001644, HP:0001635 (Dilated cardiomyopathy, Heart failure)

HPOsFreeText: LVEDD at 67 mm, LV-Ejection Fraction at 10%, Cardiac Index at 2.6

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Proband treated with VAD and HTx, No family history of cardiac disease, MYH7 Variant is asserted as de novo, Proband also has a variant in MYL2, Patient is heterozygous for MYH7 variant

CaseGenotypingMethod: Using a Cardiomyopathy gene panel of 46 genes, the proband's DNA was screened for variants. Afterwards, the variants were classified based on pathogenicity and modeled using predictive software.

Variant: NM_000257.3:c.5390T>C (p.Leu1797Pro)

ClinVar: 265799 https://www.ncbi.nlm.nih.gov/clinvar/variation/265799/

gnomAD: Not in gnomAD

Multiple Gene Variants

MYL2 Variant

Variant: NM_000432.3:c.401A>C (p.Glu134Ala)

ClinVar: 43475 https://www.ncbi.nlm.nih.gov/clinvar/variation/43475/

gnomAD: European (Non-Finnish) 3.484e-4, Overall 2.015e-4 https://gnomad.broadinstitute.org/variant/12-111350901-T-G