Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001955660 | SCV002223361 | uncertain significance | Long QT syndrome | 2022-07-18 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 501 of the KCNQ1 protein (p.Thr501Ala). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1443548). This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. This variant is present in population databases (rs749196110, gnomAD 0.003%). |
| Fulgent Genetics, |
RCV002492062 | SCV002780771 | uncertain significance | Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 | 2021-10-18 | criteria provided, single submitter | clinical testing |