Case1: female, 15 years old at last clinical evaluation

DiseaseAssertion: LVH, HCM

FamilyInfo: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText: cleft mitral valve during intrauterine life

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: evaluated previously by using a DHPLC/Sanger test to search for causative mutations within the exons of 8 sarcomeric genes: MYH7, MYBPBC3, TNNI3, TNNT2, TPM1, ACTC, MYL2, and MYL3

GenotypingMethod: Next generation sequencing, High-Throughput Sequencing

Variant: NM_000257.4:c.976G>C

ClinVar: 43117

CAID: CA017063

gnomAD: https://gnomad.broadinstitute.org/variant/14-23899792-C-G

0.0001627 European (non-Finnish)

Supplementary Data: Online Table 1a

Case:

CasePresentingHPOs: HP:0001631, HP:0001629 (atrial septal defect, ventricular septal defect)

CaseHPOFreeText: Trisomy 21

CasePreviousTesting: Full sarcomere testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (ABCC9, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYH6, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TTN, VCL and LDB3)

CaseGenotypingMethod: DNA isolated from peripheral blood, targeted enrichment, next-gen sequencing with panel of 46 genes

Variant: NM_000257.3(MYH7):c.976G>C (p.Ala326Pro)

ClinVar: 43117, https://www.ncbi.nlm.nih.gov/clinvar/variation/43117/

gnomAD: 0.00008846, https://gnomad.broadinstitute.org/variant/14-23899792-C-G

Supplementary Data table 1

Variant noted to be present in 3 individuals

Variant: NM_000257.3(MYH7):c.976G>C (p.Ala326Pro)

ClinVar: 43117, https://www.ncbi.nlm.nih.gov/clinvar/variation/43117/

gnomAD: 0.00008846, https://gnomad.broadinstitute.org/variant/14-23899792-C-G