ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7074A>G (p.Lys2358=)

gnomAD frequency: 0.00004  dbSNP: rs150968594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619447 SCV000738097 likely benign Cardiovascular phenotype 2017-07-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001466588 SCV001670592 likely benign Long QT syndrome 2023-04-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905186 SCV004725678 likely benign AKAP9-related disorder 2019-06-18 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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