ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr)

gnomAD frequency: 0.00011  dbSNP: rs147302252
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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 RCV000556054 SCV000627719 uncertain significance Long QT syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 445 of the AKAP9 protein (p.Ile445Thr). This variant is present in population databases (rs147302252, gnomAD 0.02%). 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: 457089). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508213 SCV001714216 uncertain significance not provided 2019-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384056 SCV002694478 benign Cardiovascular phenotype 2023-11-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002476103 SCV002789479 uncertain significance Long QT syndrome 11 2021-08-20 criteria provided, single submitter clinical testing

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