Case1: 48 year old male

DiseaseAssertion: . Two missense variants in MYBPC3 (NM_000256.3): c.2533C>G in exon 26 (C6 domain) were identified and, classified as a variant of uncertain significance (VUS, score 2), and c.1696T>A in exon 18 (C4 domain), a VUS with a score of 5.

FamilyInfo: There was no family history of cardiomyopathy or SCD.

ParentalTesting: NR

CasePresentingHPOs: HP:0004751, HP:0006682, HP:0001712

CaseHPOFreeText: 38 year old man, suffering from contractions, and one short run of non-sustained ventricular tachycardia lasting four beats. Asymmetric septal hypertrophy with a maximum thickness of 19 mm. In addition, marked biatrial enlargement was evident, with a left atrial volume index of 79 mL/m² and right atrial area of 25 cm². Importantly, extensive diffuse late gadolinium enhancement (LGE) was detected in the basal and mid-septal and anterior segments, involving 17% of the myocardial mass

CaseNotHPOs: NR

CasePreviousTesting: genetic testing was performed using the Health in Code HCM panel, which includes the following 18 genes: ACTC1, DES, FHL1, FHOD3, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, and TTR.

Genotyping Method: Health in Code HCM panel

FunctionalAnalysis:

Variant: NM_000256.3:c.2533C>G, NM_000256.3:c.1696T>A

ClinVarID:180973, 915724

CAID:CA380324353, CA012504

gnomAD:

AdditionalInfo:NR