Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150643 | SCV000197980 | pathogenic | Supravalvar aortic stenosis | 2011-07-28 | criteria provided, single submitter | clinical testing | The Ala582fs variant in ELN has not been reported in the literature nor previous ly been identified by our laboratory. This variant results in a frameshift begin ning at position 582. Two ELN mRNAs have been reported for this position and the Ala582fs variant creates a premature stop in both (31 amino acids downstream: N M_000501.2; 64 amino acids downstream: Tassabehji 1997). A premature stop codon at this position typically leads to mRNA degradation and therefore a heterozygou s loss of function, which is an established mechanism of disease for the ELN gen e (Human Gene Mutation Database, HGMD). Parental studies demonstrated de novo oc currence, which strongly supports a disease causing role. |