Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150635 | SCV000197970 | likely pathogenic | Supravalvar aortic stenosis | 2011-05-27 | criteria provided, single submitter | clinical testing | The Thr248fs variant has not been reported in the literature nor previously been identified by our laboratory. However, it is predicted to cause a frameshift, w hich alters the protein's amino acid sequence beginning at codon 248 and leads t o a premature stop codon 75 amino acids downstream. This alteration is predicted to lead to a truncated or absent protein and therefore to a heterozygous loss o f function of the Elastin (ELN) gene. Loss of function variants in ELN are an es tablished mechanism of disease in SVAS (Human Gene Mutation Database, HGMD). In summary, the Thr248fs variant is likely to be pathogenic. |