Submissions for variant NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr)

gnomAD frequency: 0.00024  dbSNP: rs367857951

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171713	SCV000050616	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227294	SCV000289106	likely benign	Long QT syndrome	2025-01-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384780	SCV000470204	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621863	SCV000737798	likely benign	Cardiovascular phenotype	2019-04-16	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000227294	SCV000995768	likely benign	Long QT syndrome	2018-05-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907540	SCV004730870	benign	AKAP9-related disorder	2023-07-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).