ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys)

gnomAD frequency: 0.00026  dbSNP: rs61757674
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631711 SCV000752798 uncertain significance Long QT syndrome 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 3233 of the AKAP9 protein (p.Arg3233Cys). This variant is present in population databases (rs61757674, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. ClinVar contains an entry for this variant (Variation ID: 527014). 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. 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 RCV002385983 SCV002694254 benign Cardiovascular phenotype 2024-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002477384 SCV002787026 uncertain significance Long QT syndrome 11 2022-02-09 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV000631711 SCV004021968 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BP4
CeGaT Center for Human Genetics Tuebingen RCV003884674 SCV004698328 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing AKAP9: BP4

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.