Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000627830 | SCV000748710 | uncertain significance | Supravalvar aortic stenosis | 2022-04-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ELN-related conditions. 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"). ClinVar contains an entry for this variant (Variation ID: 524222). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 380 of the ELN protein (p.Ala380Thr). |
Fulgent Genetics, |
RCV005004281 | SCV002817022 | uncertain significance | Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis | 2024-06-18 | criteria provided, single submitter | clinical testing |