Submissions for variant NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)

gnomAD frequency: 0.45670  dbSNP: rs10644111

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000170635	SCV000050787	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000170635	SCV000223187	benign	not specified	2016-09-30	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.
Eurofins Ntd Llc (ga)	RCV000170635	SCV000226119	benign	not specified	2015-06-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000170635	SCV000311256	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248835	SCV000317529	benign	Cardiovascular phenotype	2012-09-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248835	SCV000317648	benign	Cardiovascular phenotype	2012-09-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280223	SCV000470245	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000170635	SCV000538268	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in dbSNP (all): 865/2184=40%
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845418	SCV000987488	benign	not provided		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000374712	SCV001000265	benign	Long QT syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000170635	SCV001361193	benign	not specified	2019-08-12	criteria provided, single submitter	clinical testing	Variant summary: AKAP9 c.4004_4006dupAAC (p.Lys1335_Leu1336insGln) results in an in-frame insertion that is predicted to insert Gln amino acid into the encoded protein. The variant allele was found at a frequency of 0.4 in 281434 control chromosomes, predominantly at a frequency of 0.63 within the African or African-American subpopulation in the gnomAD database, including 4942 homozygotes. Therefore, suggesting the variant is the major allele observed in population(s) of African-American origin. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant three times a benign and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Genome-Nilou Lab	RCV002253258	SCV002524833	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000170635	SCV001922218	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000170635	SCV001963017	benign	not specified		no assertion criteria provided	clinical testing