Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066645 | SCV001231660 | pathogenic | Supravalvar aortic stenosis | 2019-11-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ELN are known to be pathogenic (PMID: 11175284). This variant has not been reported in the literature in individuals with ELN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu668Profs*7) in the ELN gene. It is expected to result in an absent or disrupted protein product. |