ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.7469G>A (p.Gly2490Asp) (rs760800507)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229824 SCV000289098 uncertain significance Long QT syndrome 2016-02-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 2490 of the AKAP9 protein (p.Gly2490Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs760800507, ExAC <0.01%) but has not been reported in the literature in individuals with a AKAP9-related disease. However, the frequency data is considered unreliable and did not pass ExAC quality control filters. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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.