ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr)

gnomAD frequency: 0.00003  dbSNP: rs144021475
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171588 SCV000055236 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001852074 SCV002256512 uncertain significance Long QT syndrome 2024-08-29 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 3277 of the AKAP9 protein (p.Ile3277Thr). This variant is present in population databases (rs144021475, gnomAD 0.02%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30975432). ClinVar contains an entry for this variant (Variation ID: 191396). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002372068 SCV002691130 benign Cardiovascular phenotype 2024-07-03 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.
CeGaT Center for Human Genetics Tuebingen RCV000171588 SCV004698895 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing AKAP9: BP4, BS2

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