ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.9697C>T (p.Arg3233Cys) (rs61757674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631711 SCV000752798 uncertain significance Long QT syndrome 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3233 of the AKAP9 protein (p.Arg3233Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs61757674, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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