Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181318 | SCV000233612 | pathogenic | not provided | 2013-06-08 | criteria provided, single submitter | clinical testing | The Arg1352Stop mutation in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg1352Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the DSP gene have been reported in association with ARVC. The variant is found in ARVC panel(s). |