ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148102 SCV003835854 uncertain significance Long QT syndrome 11 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246151 SCV005023996 uncertain significance Cardiovascular phenotype 2022-11-14 criteria provided, single submitter clinical testing The p.E415K variant (also known as c.1243G>A), located in coding exon 8 of the AKAP9 gene, results from a G to A substitution at nucleotide position 1243. The glutamic acid at codon 415 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is 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.