ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6330+3A>G

gnomAD frequency: 0.00005  dbSNP: rs771419309
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000133 SCV001156582 likely benign Long QT syndrome 11 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001315729 SCV001506317 uncertain significance Long QT syndrome 2023-03-15 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the AKAP9 gene. It does not directly change the encoded amino acid sequence of the AKAP9 protein. It affects a nucleotide within the consensus splice site. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 810857). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (rs771419309, gnomAD 0.03%).
GeneDx RCV001615101 SCV001835882 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363530 SCV002660643 uncertain significance Cardiovascular phenotype 2021-05-08 criteria provided, single submitter clinical testing The c.6330+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 26 in the AKAP9 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.