Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154673 | SCV000204351 | pathogenic | Supravalvar aortic stenosis | 2012-03-02 | criteria provided, single submitter | clinical testing | The 890-2A>G variant (ELN) has not been reported in the literature nor previousl y identified by our laboratory. This variant occurs in the invariant region (+/- 1, 2) of the splice consensus sequence and is predicted to cause altered splici ng leading to an abnormal or absent protein. Loss of function of the ELN gene is an established mechanism of disease in SVAS (Human Gene Mutation Database, HGMD ). In summary, the 890-2A>G variant meets out pathogenicity criteria (http://pcp gm.partners.org/lmm). |