Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150644 | SCV000197981 | pathogenic | Supravalvar aortic stenosis | 2012-07-30 | criteria provided, single submitter | clinical testing | The p.Tyr595X variant in ELN has not been previously reported in individuals wit h SVAS and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 595, which is predicted to lead to a truncated or absent protein. Heterozygous loss-of-function of the ELN gene is an established disease mechanism in SVAS (Human Gene Mutation Database, HGMD). In summary, the p.Tyr595X variant meets our criteria to be classified as pathoge nic for SVAS in an autosomal dominant manner (http://pcpgm.partners.org/lmm). |