ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=)

gnomAD frequency: 0.00024  dbSNP: rs138928104
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301195 SCV000470274 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356054 SCV000470275 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000301195 SCV001724689 benign Long QT syndrome 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356490 SCV002653619 benign Cardiovascular phenotype 2020-03-06 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.
PreventionGenetics, part of Exact Sciences RCV003972520 SCV004786903 likely benign AKAP9-related disorder 2019-03-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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