Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216654 | SCV001388460 | uncertain significance | Supravalvar aortic stenosis | 2019-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 487 of the ELN protein (p.Ala487Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ELN-related conditions. This variant is not present in population databases (ExAC no frequency). |