ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Ambry Genetics RCV000617996 SCV000735151 likely benign Cardiovascular phenotype 2018-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Subpopulation frequency in support of benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000170637 SCV000055238 likely benign not provided 2013-06-24 criteria provided, single submitter research
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624955 SCV000743177 likely benign Long QT syndrome 11 2016-12-16 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
Illumina Clinical Services Laboratory,Illumina RCV000233623 SCV000470333 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233623 SCV000289079 benign Long QT syndrome 2017-06-20 criteria provided, single submitter clinical testing

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