Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001201606 | SCV001372683 | uncertain significance | Long QT syndrome | 2023-04-18 | 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: 933401). This missense change has been observed in individuals with long QT syndrome (PMID: 21956039). This variant is present in population databases (rs769814960, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 393 of the KCNH2 protein (p.Pro393Leu). |
Fulgent Genetics, |
RCV002497688 | SCV002812072 | uncertain significance | Short QT syndrome type 1; Long QT syndrome 2 | 2021-07-05 | criteria provided, single submitter | clinical testing |