ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7700A>T (p.Tyr2567Phe)

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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 RCV002400599 SCV002673222 uncertain significance Cardiovascular phenotype 2022-02-14 criteria provided, single submitter clinical testing The p.Y2567F variant (also known as c.7700A>T), located in coding exon 31 of the AKAP9 gene, results from an A to T substitution at nucleotide position 7700. The tyrosine at codon 2567 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV003776429 SCV004659165 uncertain significance Long QT syndrome 2023-07-28 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. This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2567 of the AKAP9 protein (p.Tyr2567Phe). This variant is present in population databases (rs375743146, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AKAP9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1760223). 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 disruptive.

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