Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826180 | SCV000967719 | likely pathogenic | Hypertrophic cardiomyopathy | 2018-09-19 | criteria provided, single submitter | clinical testing | The p.Gln208X variant in MYBPC3 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 208, which is predict ed to lead to a truncated or absent protein. Loss of function of the MYBPC3 gene is an established disease mechanism in autosomal dominant hypertrophic cardiomy opathy. In summary, although additional studies are required to fully establish its clinical significance, the p.Gln208X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2. |