ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)

gnomAD frequency: 0.00298  dbSNP: rs61757672
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123582 SCV000166921 benign not specified 2011-07-11 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.
Invitae RCV000203719 SCV000259412 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248579 SCV000319042 benign Cardiovascular phenotype 2015-09-15 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123582 SCV001337736 benign not specified 2020-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002055399 SCV002497531 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing AKAP9: BP4, BP7, BS2
Genome-Nilou Lab RCV002253224 SCV002524858 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000123582 SCV001922532 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000123582 SCV001928612 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000123582 SCV001957426 benign not specified no assertion criteria provided clinical testing

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