Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001373024 | SCV001569722 | uncertain significance | Long QT syndrome | 2020-03-18 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with AKAP9-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 3606 of the AKAP9 protein (p.Lys3606Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. |
Ambry Genetics | RCV002420842 | SCV002730031 | uncertain significance | Cardiovascular phenotype | 2023-11-11 | criteria provided, single submitter | clinical testing | The p.K3606N variant (also known as c.10818G>T), located in coding exon 44 of the AKAP9 gene, results from a G to T substitution at nucleotide position 10818. The lysine at codon 3606 is replaced by asparagine, an amino acid with 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, |
RCV002476705 | SCV002778679 | uncertain significance | Long QT syndrome 11 | 2021-09-30 | criteria provided, single submitter | clinical testing |