ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His)

gnomAD frequency: 0.00262  dbSNP: rs34086871
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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 RCV000171781 SCV000055230 benign not specified 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000229065 SCV000289092 benign Long QT syndrome 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617198 SCV000735660 benign Cardiovascular phenotype 2016-05-18 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853014 SCV000995771 benign Cardiomyopathy 2017-03-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171781 SCV001426866 benign not specified 2020-07-20 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.4519G>C (p.Asp1507His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00098 in 282098 control chromosomes, predominantly at a frequency of 0.0097 within the African or African-American subpopulation in the gnomAD database, including 1 homozygote. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 2910 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 a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001571852 SCV001796396 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253268 SCV002524840 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001571852 SCV005220985 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003927572 SCV004739640 benign AKAP9-related disorder 2024-07-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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