ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu)

gnomAD frequency: 0.00004  dbSNP: rs779260877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808539 SCV000948649 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 652879). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (rs779260877, gnomAD 0.004%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 3032 of the AKAP9 protein (p.Gln3032Glu).
Ambry Genetics RCV002370160 SCV002684699 uncertain significance Cardiovascular phenotype 2023-12-16 criteria provided, single submitter clinical testing The p.Q3032E variant (also known as c.9094C>G), located in coding exon 37 of the AKAP9 gene, results from a C to G substitution at nucleotide position 9094. The glutamine at codon 3032 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487742 SCV002777352 uncertain significance Long QT syndrome 11 2021-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411786 SCV004113929 uncertain significance AKAP9-related disorder 2022-09-14 criteria provided, single submitter clinical testing The AKAP9 c.9094C>G variant is predicted to result in the amino acid substitution p.Gln3032Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-91715611-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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