Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150632 | SCV000197966 | pathogenic | Supravalvar aortic stenosis | 2013-03-19 | criteria provided, single submitter | clinical testing | The Pro44fs variant in ELN has not been reported in the literature, but has been identified by our laboratory in 1 individual with SVAS, SVPS and PPS. This vari ant results in a frameshift beginning at position 44 and leads to a premature st op codon 78 amino acids downstream. This alteration is predicted to lead to a tr uncated or absent protein. Truncating variants in ELN are an established cause o f SVAS (Human Gene Mutation Database, HGMD). In summary, the Pro44fs variant mee ts our criteria for pathogenicity (http://pcpgm.partners.org/lmm). |