ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.44C>T (p.Ala15Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003648762 SCV004509985 uncertain significance Long QT syndrome 2023-09-06 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 15 of the AKAP9 protein (p.Ala15Val). This variant is present in population databases (rs747409915, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. 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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