ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=)

gnomAD frequency: 0.00003  dbSNP: rs754974720
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619743 SCV000738109 likely benign Cardiovascular phenotype 2017-08-04 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 RCV000631762 SCV000752852 likely benign Long QT syndrome 2024-06-18 criteria provided, single submitter clinical testing
GeneDx RCV001536136 SCV001752855 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253541 SCV002524834 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905663 SCV004721094 likely benign AKAP9-related disorder 2019-08-09 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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