Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001302182 | SCV001491380 | uncertain significance | Long QT syndrome | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2226 of the AKAP9 protein (p.Val2226Ile). This variant is present in population databases (rs561591139, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005329). 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. 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. |
| Ambry Genetics | RCV002366138 | SCV002666410 | uncertain significance | Cardiovascular phenotype | 2022-02-20 | criteria provided, single submitter | clinical testing | The p.V2226I variant (also known as c.6676G>A), located in coding exon 29 of the AKAP9 gene, results from a G to A substitution at nucleotide position 6676. The valine at codon 2226 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002493591 | SCV002794527 | uncertain significance | Long QT syndrome 11 | 2021-09-20 | criteria provided, single submitter | clinical testing |