For each patient, the summary of clinical and molecular data is tabulated in Supplementary Table 3. The synonymous variants identified for each patient are given in Supplementary Table 4.
Proband - Case 21
Male, Dx at 22 yrs, MWT=30mm, LVM=148mg/m2, LVEF=75%
HP:0001639, HCM
Varient: NM_145046.4(CALR3):c.1036A>G (p.I346V)
Not in Clinvar
ExAC Score: Overall 1.647e-05
For each patient, the summary of clinical and molecular data is tabulated in Supplementary Table 3. The synonymous variants identified for each patient are given in Supplementary Table 4.
Proband - Case 21
Male, Dx at 22 yrs, MWT=30mm, LVM=148mg/m2, LVEF=75%
HP:0001639, HCM
Varient: NM_145046.4(CALR3):c.1036A>G (p.I346V)
Not in Clinvar
ExAC Score: Overall 1.647e-05
the Arg73Gln (exon 3) mutation was identified in the proband (II:1), a 28-year-old male who had been diagnosed with FHC at age 18 years and on echocardiography was found to have severe asymmetric septal hypertrophy. He has a family history of FHC, but other family members have not been willing to participate in further evaluation. Previous genetic screening of sarcomere genes identified two missense mutations in myosin-binding protein C (MyBPC3; Asp745Gly and Pro873His)
Proband 1: male, Dx at 18 years, LV septal wall thickness = 30mm, family history of HCM with father and brother affected
HP:0001639, HP:0001670
Hypertrophic cardiomyopathy, asymmetric septal hypertrophy
Variant: NM_145046.4(CALR3):c.218G>A (p.Arg73Gln).
Not in ClinVar
ExAC Score: Overall 1.624e-5
the Arg73Gln (exon 3) mutation was identified in the proband (II:1), a 28-year-old male who had been diagnosed with FHC at age 18 years and on echocardiography was found to have severe asymmetric septal hypertrophy. He has a family history of FHC, but other family members have not been willing to participate in further evaluation. Previous genetic screening of sarcomere genes identified two missense mutations in myosin-binding protein C (MyBPC3; Asp745Gly and Pro873His)
Proband 1: male, Dx at 18 years, LV septal wall thickness = 30mm, family history of HCM with father and brother affected
HP:0001639, HP:0001670
Hypertrophic cardiomyopathy, asymmetric septal hypertrophy
Variant: NM_145046.4(CALR3):c.218G>A (p.Arg73Gln).
Not in ClinVar
ExAC Score: Overall 1.624e-5