Case: 19

DiseaseAssertion: hypertrophic cardiomyopathy, Left ventricular hypertrophy

FamilyInfo: Finnish, no family info

CasePresentingHPOs: HP:0001639, HP:0001712

"hypertrophic cardiomyopathy, Left ventricular hypertrophy"

CaseHPOFreeRext:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: 24 h Holter registration and bicycle ergometer test performed in majority of patients. Cardiac magnetic resonance imaging was performed to verify the diagnosis of HCM

GenotypingMethod: Targeted next-generation sequencing of exons, UTRs and 10 bp flanking regions of 59 cardiomyopathy associated genes, filtered variants confirmed by Sanger sequencing

Variant:

MYH7 Variant: NM_000257.4:c.3158G>A

ClinVarID: 155814

gnomAD: http://gnomad.broadinstitute.org/variant/14-23891476-C-T

Total Allele Frequency: 0.00006010 European Finnish: 0.0006368

PreviouslyPublished:

SupplementalData: Table S3: list of all 382 patients with HCM included in the FinHCM Genetic Study, and the rare variants (GMAF <1%) detected in each patient.

Case: 8

DiseaseAssertion: hypertrophic cardiomyopathy, Left ventricular hypertrophy

FamilyInfo: Finnish, no family info

CasePresentingHPOs: HP:0001639, HP:0001712

"hypertrophic cardiomyopathy, Left ventricular hypertrophy"

CaseHPOFreeRext:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: 24 h Holter registration and bicycle ergometer test performed in majority of patients. Cardiac magnetic resonance imaging was performed to verify the diagnosis of HCM

GenotypingMethod: Targeted next-generation sequencing of exons, UTRs and 10 bp flanking regions of 59 cardiomyopathy associated genes, filtered variants confirmed by Sanger sequencing

MultipleGeneVariants:

(1) LAMA4 Variant: c.2593C>G (unknown HGVS descriptor)

ClinVarID: unknown

gnomAD: unknown

(2) MYH7 Variant: NM_000257.4:c.3158G>A

ClinVarID: 155814

gnomAD: http://gnomad.broadinstitute.org/variant/14-23891476-C-T

Total Allele Frequency: 0.0000601 European (Finnish): 0.0006368

PreviouslyPublished:

SupplementalData: Table S3: list of all 382 patients with HCM included in the FinHCM Genetic Study, and the rare variants (GMAF <1%) detected in each patient.

Case: 2

DiseaseAssertion: hypertrophic cardiomyopathy, Left ventricular hypertrophy

FamilyInfo: Finnish, no family info

CasePresentingHPOs: HP:0001639, HP:0001712

"hypertrophic cardiomyopathy, Left ventricular hypertrophy"

CaseHPOFreeRext:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: 24 h Holter registration and bicycle ergometer test performed in majority of patients. Cardiac magnetic resonance imaging was performed to verify the diagnosis of HCM

GenotypingMethod: Targeted next-generation sequencing of exons, UTRs and 10 bp flanking regions of 59 cardiomyopathy associated genes, filtered variants confirmed by Sanger sequencing

MultipleGeneVariants:

(1) MYH7 Variant: NM_000257.4:c.3158G>A

ClinVarID: 155814

gnomAD: http://gnomad.broadinstitute.org/variant/14-23891476-C-T

Total Allele Frequency: 0.00006010 European Finnish: 0.0006368

(2) MYBPC3 Variant: NM_000256.3:c.440C>T

ClinVarID: 181035

gnomAD: http://gnomad.broadinstitute.org/variant/11-47371630-G-A

Total Allele Frequency: 0.0005896 European (Finnish): 0.005563

(3) MYOZ2 Variant: NM_016599.4:c.738A>G

ClinVarID: 30509

gnomAD: http://gnomad.broadinstitute.org/variant/4-120107298-A-G

Total Allele Frequency: 0.0023 European (Finnish): 0.02188

(4) PSEN2 Variant: NM_012486.2:c.211C>T

ClinVarID: 192130

gnomAD: http://gnomad.broadinstitute.org/variant/1-227071475-C-T

Total Allele Frequency: 0.003711 European (Finnish): 0.01791

(5) SCN5A Variant: NM_000335.4:c.1715C>A

ClinVarID: 67683

gnomAD: http://gnomad.broadinstitute.org/variant/3-38645378-G-T

Total Allele Frequency: 0.005175 European (Finnish): 0.03855

PreviouslyPublished:

SupplementalData: Table S3: list of all 382 patients with HCM included in the FinHCM Genetic Study, and the rare variants (GMAF <1%) detected in each patient.