Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Strand Center for Genomics and Personalized Medicine, |
RCV000157648 | SCV000195853 | likely pathogenic | Premature coronary artery atherosclerosis | 2013-11-22 | no assertion criteria provided | clinical testing | This SELP splice site variant c.775+1G>A was found heterozygously in 60 year male suffering from idiopathic hypertrophic subaortic stenosis with hypertension. The change is predicted to cause a frameshift and premature truncation (p.Leu258fs*3) in the protein and may result in a soluble P-selectin variant protein. Soluble P-selectin variant proteins have been reported to enhance platelet aggregation on the endothelium, and has been reported in arterial diseases. In silico analysis tools predict the c.775+1G>A substitution to alter an essential splice donor site, to cause the use of a predicted alternate cryptic splice acceptor site, and to lead to the premature truncation of the protein three amino acids after the frameshift p.Leu258fs.Variants in SELP have been associated with an increased risk for coronary heart disease and myocardial infarction in patients with an age of disease onset of 45-50 years, and hence contributing to premature coronary artery disease (PMID: 15121769). |