ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) (rs34327395)

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Total submissions: 9
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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 RCV000123590 SCV000055244 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123590 SCV000166929 benign not specified 2011-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000204039 SCV000262465 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123590 SCV000311252 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000241801 SCV000318239 benign Cardiovascular phenotype 2015-08-10 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 RCV000294135 SCV000470351 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624957 SCV000743179 benign Long QT syndrome 11 2014-10-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853026 SCV000995783 benign Cardiomyopathy 2019-06-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123590 SCV001362465 benign not specified 2019-10-08 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.10840A>G (p.Met3614Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.007 in 251372 control chromosomes in the gnomAD database, including 12 homozygotes. The observed variant frequency is approximately 703 fold of the estimated maximal expected allele frequency for a pathogenic variant in AKAP9 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. Three 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.

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