Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151146 | SCV000198935 | pathogenic | Hypertrophic cardiomyopathy | 2014-07-31 | criteria provided, single submitter | clinical testing | The Gln327X variant in MYBPC3 has not been reported in individuals with cardiomy opathy and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 327, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the MYBPC3 gene is an established disease mechanism in individuals with HCM. In summary, this v ariant meets our criteria to be classified as pathogenic (http://pcpgm.partners. org/LMM) based on the predicted impact of the variant. |