ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)

gnomAD frequency: 0.00015  dbSNP: rs374340343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623781 SCV000740545 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432207 SCV001634971 likely benign Long QT syndrome 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438304 SCV002752477 likely benign Cardiovascular phenotype 2021-09-21 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.
PreventionGenetics, part of Exact Sciences RCV003979946 SCV004791344 likely benign AKAP9-related disorder 2021-02-09 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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