Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242894 | SCV001416013 | uncertain significance | Supravalvar aortic stenosis | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 305 of the ELN protein (p.Ala305Val). This variant is present in population databases (rs782396192, gnomAD 0.01%). This missense change has been observed in individual(s) with aortic dissection (PMID: 34422331). This variant is also known as c.C806T(p.A269V). ClinVar contains an entry for this variant (Variation ID: 967881). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ELN protein function with a negative predictive value of 80%. 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. |