Submissions for variant NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)

gnomAD frequency: 0.00599  dbSNP: rs36083134

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039376	SCV000063060	benign	not specified	2012-07-17	criteria provided, single submitter	clinical testing	Ala366Thr in exon 12 of TMEM43: This variant is not expected to have clinical si gnificance because it has been identified in 2% (82/4406) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/rs36083134). Ala366Thr in exon 12 of TMEM43 (rs36083 134; allele frequency = 2%, 82/4406) **
Invitae	RCV000233079	SCV000290713	benign	Arrhythmogenic right ventricular dysplasia 5	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246312	SCV000318503	benign	Cardiovascular phenotype	2015-10-20	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.
Athena Diagnostics	RCV000039376	SCV000615817	benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769160	SCV000900535	benign	Cardiomyopathy	2016-10-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769160	SCV000913786	benign	Cardiomyopathy	2018-10-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001682735	SCV001474041	benign	not provided	2022-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001682735	SCV001904871	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039376	SCV001923838	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001682735	SCV001930666	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039376	SCV001955801	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039376	SCV001970606	benign	not specified		no assertion criteria provided	clinical testing