Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035608 | SCV000059259 | pathogenic | Hypertrophic cardiomyopathy | 2011-09-28 | criteria provided, single submitter | clinical testing | The Lys1232X variant (MYBPC3) has been identified by our laboratory in 1 out o f >2,000 Caucasian probands tested. This variant leads to a premature stop at co don 1232, which is predicted to lead to a truncated or absent protein and theref ore to a heterozygous loss of function. Loss of function of the MYBPC3 gene is an established mechanism of disease in HCM, which is consistent with this indivi dual's clinical features. In summary, the Lys1232X variant is highly likely to b e pathogenic. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845508 | SCV000987610 | likely pathogenic | Primary familial hypertrophic cardiomyopathy | criteria provided, single submitter | clinical testing |