Submissions for variant NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)

gnomAD frequency: 0.41920  dbSNP: rs6964587

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171778	SCV000050789	benign	Colorectal cancer	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000123592	SCV000166931	benign	not specified	2011-08-08	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)	RCV000123592	SCV000232692	benign	not specified	2015-05-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000123592	SCV000311253	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244317	SCV000317558	benign	Cardiovascular phenotype	2015-03-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000123592	SCV000538267	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 ESP (all): 5727/13002=44%
Invitae	RCV000350947	SCV001000263	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000602690	SCV001156896	benign	Long QT syndrome 11	2023-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123592	SCV001361192	benign	not specified	2019-08-12	criteria provided, single submitter	clinical testing	Variant summary: AKAP9 c.1389G>T (p.Met463Ile) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.38 in 250610 control chromosomes, predominantly at a frequency of 0.51 within the African or African-American subpopulation in the gnomAD database, including 2115 homozygotes. Therefore, suggesting the variant is the major allele found in population(s) of African American origin. Four ClinVar submissions (evaluation after 2014) cite the variant three times as benign and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Genome-Nilou Lab	RCV000602690	SCV002524818	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602690	SCV000734574	benign	Long QT syndrome 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000123592	SCV001924686	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000123592	SCV001958696	benign	not specified		no assertion criteria provided	clinical testing