Submissions for variant NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg)

gnomAD frequency: 0.00014  dbSNP: rs139612565

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171717	SCV000055228	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Ambry Genetics	RCV000247905	SCV000319617	likely benign	Cardiovascular phenotype	2018-02-08	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.
Illumina Laboratory Services, Illumina	RCV000340819	SCV000470249	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000285908	SCV000752899	likely benign	Long QT syndrome	2023-11-03	criteria provided, single submitter	clinical testing
Dept of Medical Biology, Uskudar University	RCV000285908	SCV004022087	likely benign	Long QT syndrome	2024-01-08	criteria provided, single submitter	research	Criteria: BS1, BP4
CeGaT Center for Human Genetics Tuebingen	RCV000171717	SCV004164283	benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	AKAP9: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003907541	SCV004721275	likely benign	AKAP9-related disorder	2019-06-18	criteria provided, single submitter	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).