Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626795 | SCV000747498 | uncertain significance | Varicose disease; Inguinal hernia; Bruising susceptibility; Aortic root aneurysm; Gastrointestinal carcinoma; Prominent superficial blood vessels; Dilatation of the sinus of Valsalva; Colorectal polyposis | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311284 | SCV001501396 | uncertain significance | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529795 | SCV003455896 | uncertain significance | Supravalvar aortic stenosis | 2023-08-29 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 523433). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is present in population databases (rs766735416, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 300 of the ELN protein (p.Thr300Ser). |