Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001841003 | SCV001354434 | uncertain significance | Cardiac arrhythmia | 2021-03-01 | criteria provided, single submitter | clinical testing | This variant results in a duplication of two amino acids in the KCNH2 protein. To our knowledge, functional assays have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/145596 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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. |
| Invitae | RCV001862957 | SCV002263378 | uncertain significance | Long QT syndrome | 2021-06-21 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with KCNH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 925579). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.3091_3096dup, results in the insertion of 2 amino acid(s) to the KCNH2 protein (p.Gly1031_Arg1032dup), but otherwise preserves the integrity of the reading frame. |