DiseaseAssertion: None

VariantPreviousTesting: Some combination of ACTC1, ACTN2, CSRP3, LAMP2, MYBPC3, MYH7, NEXN, PLN, TNNC1, TNNI3, TNNT2, TPM1, ABCC9, CTF1, DES, EMD, LDB3, LMNA, MYH6, RBM20, SGCD, TAZ, TCAP, TTN, VCL, CAV3, GLA, MYL2, MYL3, MYOZ2, PRKAG2, TTR, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43, CASQ2 and RYR2 were tested via NGS.

VariantGenotypingMethod: Next-generation sequencing panels were used to sequence and read the genetic information of probands for variants within exons and in +/- 10 nucleotides within the flanking introns of the genes provided above. These variants were then interpreted and filtered for pathogenicity.

Variant: NM_000257.4(MYH7):c.2360G>A (p.Arg787His)

ClinVar: 42900 https://www.ncbi.nlm.nih.gov/clinvar/variation/42900/

gnomAD: 0.001339, http://gnomad.broadinstitute.org/variant/14-23894554-C-T

Case#: HCM957, male, 30 years,

DiseaseAssertion: HCM

FamilyInfo: Yes, no other HCM in family

CasePresentingHPOs: syncope (HP:0001279)

CaseHPOFreeText: inverted T-waves, ST-segment depression, left anterior branch block, 28mm MLVWT, 58% LVE F, 1.25 E/A ratio, LVOT-PG 7mm

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

CaseGenotypingMethod: sequencing, physical examination, ECG, 3D modeling, statistical analysis

MultipleGeneVariants:

(1) Variant: NM_000257.4(MYH7):c.2360G>A (p.Arg787His)

ClinVar: 42900 https://www.ncbi.nlm.nih.gov/clinvar/variation/42900/

CAID: N/A

gnomAD: 0.001339 South Asian https://gnomad.broadinstitute.org/variant/14-23894554-C-T

(2) Variant: NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)

ClinVar: 161320 https://www.ncbi.nlm.nih.gov/clinvar/variation/161320/

CAID: N/A

gnomAD: 0.00005423 European (Non-Finnish) https://gnomad.broadinstitute.org/variant/14-23883310-G-A