Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158071 | SCV000208006 | pathogenic | not provided | 2016-10-21 | criteria provided, single submitter | clinical testing | The K418X mutation in the MYBPC3 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. K418X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the MYBPC3 gene have been reported in association with HCM. In summary, K418X in the MYBPC3 gene is interpreted as a pathogenic variant. The variant is found in HCM panel(s). |