Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002019945 | SCV002296198 | uncertain significance | Long QT syndrome | 2022-12-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1501828). 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. This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs764446660, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1926 of the ANK2 protein (p.Pro1926Leu). |