ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu)

gnomAD frequency: 0.00006  dbSNP: rs147772200
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464491 SCV000553467 uncertain significance Long QT syndrome 2023-07-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 412018). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1823 of the AKAP9 protein (p.Gln1823Leu). This variant is present in population databases (rs147772200, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002481476 SCV002787955 uncertain significance Long QT syndrome 11 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298510 SCV004000187 uncertain significance Cardiovascular phenotype 2023-04-18 criteria provided, single submitter clinical testing The p.Q1823L variant (also known as c.5468A>T), located in coding exon 22 of the AKAP9 gene, results from an A to T substitution at nucleotide position 5468. The glutamine at codon 1823 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Dept of Medical Biology, Uskudar University RCV000464491 SCV004022064 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2

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