ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) (rs34956633)

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Total submissions: 6
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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 RCV000171783 SCV000055241 benign not specified 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000248840 SCV000319122 benign Cardiovascular phenotype 2015-07-16 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 RCV000301532 SCV000470337 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000398846 SCV000563321 benign Long QT syndrome 2020-12-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845421 SCV000987492 likely benign not provided criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171783 SCV001361463 benign not specified 2019-10-15 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.10331A>G (p.Gln3444Arg) 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 0.0037 in 246960 control chromosomes, predominantly at a frequency of 0.049 within the African or African-American subpopulation in the gnomAD database, including 23 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 4900-folds of the estimated maximal expected allele frequency for a pathogenic variant in AKAP9 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Three ClinVar submissions (evaluation after 2014) cites the variant twice as benign and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.

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