ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.3118A>G (p.Lys1040Glu) (rs1265369157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764726 SCV000895861 uncertain significance Long QT syndrome 11 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000546415 SCV000627727 uncertain significance Long QT syndrome 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1040 of the AKAP9 protein (p.Lys1040Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a AKAP9-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on AKAP9 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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