ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) (rs35669569)

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Total submissions: 10
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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 RCV000171775 SCV000050792 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV000204404 SCV000261484 benign Long QT syndrome 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254067 SCV000318648 benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000407417 SCV000470193 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000624948 SCV000602458 benign Long QT syndrome 11 2019-03-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624948 SCV000743170 benign Long QT syndrome 11 2016-05-11 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853010 SCV000995766 benign Atrial fibrillation; Cardiomyopathy; Heart failure; Hypertrophic cardiomyopathy 2019-05-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171775 SCV001448555 benign not specified 2020-11-23 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.139C>T (p.His47Tyr) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.008 in 251216 control chromosomes in the gnomAD database, including 12 homozygotes. The observed variant frequency is approximately 2413 fold of the estimated maximal expected allele frequency for a pathogenic variant in AKAP9 causing Long QT Syndrome phenotype (3.3e-06), strongly suggesting that the variant is benign. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001711344 SCV001944416 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000171775 SCV001919455 benign not specified no assertion criteria provided clinical testing

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