CaseMYH7-12: Australia

DiseaseAssertion: Hypertrophic Cardiomyopathy

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

HPOsFreeText: N/A

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CasePreviousTesting: See Table 1

CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.

Variant: NM_000257.3:c.3236G>A (p.Arg1079Gln)

ClinVar: 177826 https://www.ncbi.nlm.nih.gov/clinvar/variation/177826/

gnomAD: European (Non-Finnish) 1.549e-5, Overall 7.073e-6 https://gnomad.broadinstitute.org/variant/14-23891398-C-T

Case#: 12th case, male, 35 years

DiseaseAssertion: SHCM

FamilyInfo: No

CasePresentingHPOs: Mycardial fibrosis (HP:0001685)

CaseHPOFreeText: 494 g heart, IVST to LVWT ratio 1.35, IVST 2.3 cm, LVWT 1.7 cm, hypertrophy of myocardial fibers, stenosis in lumens,

CaseNotHPOs: N/A

CaseNotHPOFreeText: no pathological changes found in major organs besides heart

CasePreviousTesting: N/A

CaseGenotypingMethod: physical examination, ECG, 2D and Doppler echocardiography, histological examinations, genomic DNA extraction, DNA cloning, sequence analysis

Variant: NM_000257.4(MYH7):c.1402T>C (p.Phe468Leu)

ClinVar: 177821 https://www.ncbi.nlm.nih.gov/clinvar/variation/177821/

CAID: N/A

gnomAD: absent

Supplementary Data: S2 Table

Case 12: Spanish, 83yo, Female

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePreviousTesting: Full Testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data table S1

CaseGenotypingMethod: genomic DNA obtained from blood or saliva, PCR, Sanger Sequencing

Variant: NM_000257.3(MYH7):c.3236G>A (p.Arg1079Gln)

ClinVar: 177826, https://www.ncbi.nlm.nih.gov/clinvar/variation/177826/

gnomAD: 0.000007073, https://gnomad.broadinstitute.org/variant/14-23891398-C-T