Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199115 | SCV000250049 | likely pathogenic | not provided | 2016-12-28 | criteria provided, single submitter | clinical testing | Although the c.1859-1 G>A likely pathogenic variant in the ELN gene has not been reported as a pathogenic variant or as a benign variant to our knowledge, this varaint destroys the canonical splice acceptor site in intron 27 and is predicted to cause abnormal gene splicing. Other pathogenic splice site variants in the ELN gene have been reported in the Human Gene Mutation Database in association with disease (Stenson et al., 2014). Furthermore, the c.1859-1 G>A likely pathogenic variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.While the c.1859-1 G>A variant has not been published, it is expected to be pathogenic, as loss of function variants in this gene are strongly associated with this phenotype. |