Submissions for variant NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=)

gnomAD frequency: 0.00006  dbSNP: rs151197146

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000370962	SCV000470255	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618070	SCV000737873	likely benign	Cardiovascular phenotype	2017-01-11	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	RCV000307033	SCV001011826	likely benign	Long QT syndrome	2023-12-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922603	SCV004742112	likely benign	AKAP9-related disorder	2019-05-08	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).