ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) (rs6964587)

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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 RCV000171778 SCV000050789 benign Colorectal cancer 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123592 SCV000166931 benign not specified 2011-08-08 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123592 SCV000232692 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123592 SCV000311253 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244317 SCV000317558 benign Cardiovascular phenotype 2015-03-23 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000123592 SCV000538267 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 5727/13002=44%
Invitae RCV000350947 SCV001000263 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000602690 SCV001156896 benign Long QT syndrome 11 2018-07-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123592 SCV001361192 benign not specified 2019-08-12 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.1389G>T (p.Met463Ile) 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 0.38 in 250610 control chromosomes, predominantly at a frequency of 0.51 within the African or African-American subpopulation in the gnomAD database, including 2115 homozygotes. Therefore, suggesting the variant is the major allele found in population(s) of African American origin. Four ClinVar submissions (evaluation after 2014) cite the variant three times as benign and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602690 SCV000734574 benign Long QT syndrome 11 no assertion criteria provided clinical testing

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