ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu)

gnomAD frequency: 0.00001  dbSNP: rs1376036983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210726 SCV001382227 uncertain significance Long QT syndrome 2022-11-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 941022). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1823 of the AKAP9 protein (p.Gln1823Glu).
Ambry Genetics RCV002348688 SCV002650541 uncertain significance Cardiovascular phenotype 2023-08-29 criteria provided, single submitter clinical testing The p.Q1823E variant (also known as c.5467C>G), located in coding exon 22 of the AKAP9 gene, results from a C to G substitution at nucleotide position 5467. The glutamine at codon 1823 is replaced by glutamic acid, an amino acid with highly similar 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.
Fulgent Genetics, Fulgent Genetics RCV002484143 SCV002784678 uncertain significance Long QT syndrome 11 2021-10-14 criteria provided, single submitter clinical testing

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