ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.8531C>A (p.Ser2844Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002588406 SCV003494510 uncertain significance Long QT syndrome 2022-03-21 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 2844 of the AKAP9 protein (p.Ser2844Tyr).
Ambry Genetics RCV004634181 SCV005123557 uncertain significance Cardiovascular phenotype 2024-05-27 criteria provided, single submitter clinical testing The p.S2844Y variant (also known as c.8531C>A), located in coding exon 33 of the AKAP9 gene, results from a C to A substitution at nucleotide position 8531. The serine at codon 2844 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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