Case: Pedigree 4 proband, congenital (abnormalities noticed at 24wks gestation), Yemenite Jewish

CasePresentingHPOs: HP:0012817, HP:0010316 (noncompaction cardiomyopathy, Ebstein anomaly)

HPOsFreeText: clinical severity: moderate to asymptomatic

CaseNotHPOs:

NotHPOsFreeText: skeletal involvement

CasePreviousTesting: none

CaseGenotypingMethod: MYH7 sequencing

Variant: NM_000257.4:c.1859T>C (p.Leu620Pro)

CAID: CA389049669, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389049669

gnomAD: n/a

FamilyInfo: father, the paternal grandmother, and paternal uncle had a known history of Ebstein anomaly and NCCM, proband's 2 sisters are healthy with no evidence of cardiomyopathy, 7 other family members diagnosed with Ebstein anomaly and NCCM, but most were asymptomatic, variant segregated with all affected members in heterozygous state, no unaffected members were genotype positive

Case378: Female, Birth onset, Japan, Asian

DiseaseAssertion: Left ventricular noncompaction

FamilyInfo: Sister has LVNC

CasePresentingHPOs: HP:0030682, HP:0025169, HP:0001635, HP:0005110 (Left ventricular noncompaction, Left ventricular systolic dysfunction, Heart failure, Atrial fibrillation)

HPOsFreeText: Left Ventricular Ejection Fraction at 20%, LVDD-Z score at 0.1

CaseNotHPOs: N/A

NotHPOsFreeText: Congenital heart disease with significant hemodynamic changes

CaseAddInfo:

CasePreviousTesting: Genes tested include the 8 sarcomere genes as well as 65 more listed in Table S1.

CaseGenotypingMethod: Genomic DNA was extracted from whole blood from each of the probands. Next Generation Sequencing of 73 genes related to cardiac function was performed, incorporating PCR amplification, and any variants found were subjected to filtering for frequency and pathogenicity. Any variants suggested to be pathogenic were confirmed by Sanger sequencing afterwards.

Variant: NM_000257.3:c.1859T>C (p.Leu620Pro)

CAID: CA389049669 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000257.3:c.1859T%3EC

gnomAD: Not in gnomAD