ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) (rs140470576)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000170637 SCV000055238 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000233623 SCV000289079 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351603 SCV000470332 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617996 SCV000735151 likely benign Cardiovascular phenotype 2019-04-01 criteria provided, single submitter clinical testing Insufficient evidence;Subpopulation frequency in support of benign classification
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624955 SCV000743177 likely benign Long QT syndrome 11 2016-12-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000170637 SCV000884991 likely benign not provided 2017-08-07 criteria provided, single submitter clinical testing The p.Ser3373Tyr variant (rs140470576) has been reported in a sudden infant death cohort; however the variant was only able to be classified as a variant of uncertain significance because familial segregation studies were not conducted (Neubauer 2017). Furthermore the p.Ser3373Tyr variant was identified in 3/1740 individuals not selected for arrhythmia, cardiomyopathy, or sudden cardiac death and classified as likely benign in a large exome cohort (Ng 2013). This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 0.6 percent (identified on 199 out of 30,780 chromosomes including 4 homozygotes) and has been reported to ClinVar (Variation ID: 190510). Based on these observations, the p.Ser3373Tyr variant is likely to be 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.