Submissions for variant NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)

gnomAD frequency: 0.00082  dbSNP: rs151021935

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000170638	SCV000050737	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000168182	SCV000218845	likely benign	Long QT syndrome	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000185487	SCV000223190	likely benign	not specified	2016-10-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000267992	SCV000470262	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619474	SCV000735747	benign	Cardiovascular phenotype	2018-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000170638	SCV000987629	likely benign	not provided		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001550	SCV001158924	likely benign	Long QT syndrome 11	2020-03-03	criteria provided, single submitter	clinical testing
Dept of Medical Biology, Uskudar University	RCV000168182	SCV004022040	likely benign	Long QT syndrome	2024-01-08	criteria provided, single submitter	research	Criteria: BS1, BP4
CeGaT Center for Human Genetics Tuebingen	RCV000170638	SCV004164286	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	AKAP9: BP4, BS1, BS2
Blueprint Genetics	RCV000157102	SCV000206825	uncertain significance	Sudden cardiac death	2014-10-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975224	SCV004792678	likely benign	AKAP9-related disorder	2019-05-02	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).