Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001920492 | SCV002186272 | uncertain significance | Long QT syndrome | 2021-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with arginine at codon 282 of the AKAP9 protein (p.His282Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV004043321 | SCV003894239 | uncertain significance | Cardiovascular phenotype | 2023-01-17 | criteria provided, single submitter | clinical testing | The c.845A>G (p.H282R) alteration is located in exon 7 (coding exon 7) of the AKAP9 gene. This alteration results from a A to G substitution at nucleotide position 845, causing the histidine (H) at amino acid position 282 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |