Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206042 | SCV001377329 | uncertain significance | Long QT syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841184 | SCV001735797 | uncertain significance | Cardiac arrhythmia | 2020-10-07 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with cysteine at codon 541 of the KCNH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/247972 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002491623 | SCV002786868 | uncertain significance | Short QT syndrome type 1; Long QT syndrome 2 | 2021-10-06 | criteria provided, single submitter | clinical testing |