Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209572 | SCV001381013 | uncertain significance | Long QT syndrome | 2023-08-03 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 940061). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. This variant is present in population databases (rs143335921, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 796 of the KCNH2 protein (p.Val796Leu). |
Fulgent Genetics, |
RCV002497719 | SCV002812179 | uncertain significance | Short QT syndrome type 1; Long QT syndrome 2 | 2021-07-22 | criteria provided, single submitter | clinical testing |