Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035372 | SCV000059020 | pathogenic | Hypertrophic cardiomyopathy | 2010-08-13 | criteria provided, single submitter | clinical testing | The Glu386X variant has not been reported in the literature nor has it been prev iously detected by our laboratory. This variant leads to a premature stop at co don 386, which is then predicted to lead to a truncated or absent protein (loss of function). Loss of function of the MYBPC3 gene is an established disease mech anism in HCM patients, which makes it highly likely that the Glu386X variant is pathogenic. |