ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.2230G>A (p.Glu744Lys) (rs202091548)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171714 SCV000050625 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000816680 SCV000957198 uncertain significance Long QT syndrome 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 744 of the AKAP9 protein (p.Glu744Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs202091548, ExAC 0.01%). This variant has not been reported in the literature in individuals with AKAP9-related disease. ClinVar contains an entry for this variant (Variation ID: 191514). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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