ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367422 SCV002666893 uncertain significance Cardiovascular phenotype 2022-10-21 criteria provided, single submitter clinical testing The p.M2372T variant (also known as c.7115T>C), located in coding exon 31 of the AKAP9 gene, results from a T to C substitution at nucleotide position 7115. The methionine at codon 2372 is replaced by threonine, 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.
Dept of Medical Biology, Uskudar University RCV003318418 SCV004022010 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4
Invitae RCV003318418 SCV004327745 uncertain significance Long QT syndrome 2023-06-02 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1757237). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (rs749716365, gnomAD 0.002%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2372 of the AKAP9 protein (p.Met2372Thr).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.