ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) (rs142401936)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171712 SCV000050732 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123591 SCV000166930 benign not specified 2013-02-15 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000123591 SCV000602460 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618431 SCV000735921 likely benign Cardiovascular phenotype 2018-08-06 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624947 SCV000743169 likely benign Long QT syndrome 11 2017-03-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624947 SCV000744222 likely benign Long QT syndrome 11 2016-09-21 criteria provided, single submitter clinical testing
Invitae RCV001080217 SCV000752848 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000171712 SCV000987596 likely benign not provided criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123591 SCV001337794 benign not specified 2020-01-20 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.80C>T (p.Ser27Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0017 in 249848 control chromosomes in the gnomAD database, including 2 homozygotes. The observed variant frequency is approximately 173 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. Five 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.