Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002439449 | SCV002752165 | uncertain significance | Cardiovascular phenotype | 2023-11-17 | criteria provided, single submitter | clinical testing | The p.D920G variant (also known as c.2759A>G), located in coding exon 8 of the AKAP9 gene, results from an A to G substitution at nucleotide position 2759. The aspartic acid at codon 920 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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. |
Labcorp Genetics |
RCV003647934 | SCV004538125 | uncertain significance | Long QT syndrome | 2023-01-07 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs748461520, gnomAD 0.006%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1795639). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 920 of the AKAP9 protein (p.Asp920Gly). |