Table 1.
Clinical Findings for High-Frequency Variants Associated with Hypertrophic Cardiomyopathy.
| Originally Reported Status of Variant* |
Patient’s Age |
Patient’s Ethnic Background |
Report Year |
Report Result |
Variant | Most Significant Pathogenic Variant† |
Indication for Test |
|---|---|---|---|---|---|---|---|
| Pathogenic | 46 yr | Unavailable | 2005 | Positive | TNNI3 (P82S) | Yes | Clinical diagnosis of hypertrophic cardiomyopathy |
| Pathogenic | 75 yr | Unavailable | 2005 | Positive | TNNI3 (P82S) | Yes | Family history and clinical symptoms of hypertrophic cardiomyopathy |
| Presumed pathogenic | 32 yr | African ancestry | 2005 | Positive | TNNI3 (P82S) | No | Clinical diagnosis of hypertrophic cardiomyopathy |
| Pathogenicity debated | 34 yr | African ancestry | 2005 | Positive | TNNI3 (P82S) | No | Clinical diagnosis and family history of hypertrophic cardiomyopathy |
| Unknown significance | 12 yr | African ancestry | 2006 | Inconclusive | TNNI3 (P82S) | Yes | Family history of hypertrophic cardiomyopathy |
| Unknown significance | 40 yr | African ancestry | 2007 | Inconclusive | TNNI3 (P82S) | Yes | Clinical diagnosis of hypertrophic cardiomyopathy |
| Unknown significance | 45 yr | African ancestry | 2007 | Inconclusive | TNNI3 (P82S) | Yes | Clinical features of hypertrophic cardiomyopathy |
| Unknown significance | 16 yr | Asian ancestry | 2008 | Positive | TNNI3 (P82S) | No | Clinical diagnosis and family history of hypertrophic cardiomyopathy |
| Presumed pathogenic | 59 yr | African ancestry | 2006 | Positive | MYBPC3 (G278E) | Yes | Clinical features of hypertrophic cardiomyopathy |
| Presumed pathogenic | 15 yr | African ancestry | 2007 | Positive | MYBPC3 (G278E) | Yes | Clinical diagnosis of hypertrophic cardiomyopathy |
| Presumed pathogenic | 16 yr | African ancestry | 2007 | Positive | MYBPC3 (G278E) | Yes | Clinical diagnosis of hypertrophic cardiomyopathy |
| Presumed pathogenic | 22 yr | African ancestry | 2007 | Positive | MYBPC3 (G278E) | No | Clinical diagnosis and family history of hypertrophic cardiomyopathy |
| Unknown significance | 48 yr | African ancestry | 2008 | Positive | MYBPC3 (G278E) | No | Clinical diagnosis of hypertrophic cardiomyopathy |
*
All variants subsequently have been reclassified as benign.
†
Information in this column indicates whether the variant was unequivocally the most pathogenic variant in the original report that was provided to the patient.