Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001361407 | SCV001557382 | uncertain significance | Long QT syndrome | 2023-05-01 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1053104). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (rs772512812, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2159 of the AKAP9 protein (p.Ala2159Val). |
Ambry Genetics | RCV004036803 | SCV005024048 | uncertain significance | Cardiovascular phenotype | 2023-11-02 | criteria provided, single submitter | clinical testing | The p.A2159V variant (also known as c.6476C>T), located in coding exon 27 of the AKAP9 gene, results from a C to T substitution at nucleotide position 6476. The alanine at codon 2159 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |