ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)

gnomAD frequency: 0.00018  dbSNP: rs201048693
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Total submissions: 7
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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 RCV000171726 SCV000055235 likely benign not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000530961 SCV000627766 benign Long QT syndrome 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619253 SCV000737874 likely benign Cardiovascular phenotype 2017-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000853024 SCV000995781 benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333447 SCV001526019 uncertain significance Long QT syndrome 11 2018-12-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000171726 SCV001787372 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230433 SCV003928242 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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