ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.5117A>G (p.Asp1706Gly) (rs139468199)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620424 SCV000735742 uncertain significance Cardiovascular phenotype 2017-01-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000170614 SCV000223166 likely benign not specified 2011-12-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000472477 SCV000553468 uncertain significance Long QT syndrome 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1706 of the AKAP9 protein (p.Asp1706Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs139468199, ExAC 0.04%) but has not been reported in the literature in individuals with an AKAP9-related disease. 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 variant is a rare missense change that is not predicted to affect protein function or cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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