ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7229C>A (p.Thr2410Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002370986 SCV002671401 uncertain significance Cardiovascular phenotype 2024-05-19 criteria provided, single submitter clinical testing The p.T2410N variant (also known as c.7229C>A), located in coding exon 31 of the AKAP9 gene, results from a C to A substitution at nucleotide position 7229. The threonine at codon 2410 is replaced by asparagine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003533196 SCV004296933 uncertain significance Long QT syndrome 2023-07-31 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1757792). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2410 of the AKAP9 protein (p.Thr2410Asn). 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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