ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9867A>G (p.Ser3289=)

gnomAD frequency: 0.00006  dbSNP: rs61757675
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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 RCV000619074 SCV000736139 likely benign Cardiovascular phenotype 2017-12-01 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 RCV000861514 SCV001001853 likely benign Long QT syndrome 2020-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953097 SCV004769543 likely benign AKAP9-related disorder 2019-11-21 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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