Submissions for variant NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)

gnomAD frequency: 0.35127  dbSNP: rs2340917

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039389	SCV000051600	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039389	SCV000063073	benign	not specified	2012-04-16	criteria provided, single submitter	clinical testing	Met179Thr in exon 7 of TMEM43: This variant is not expected to have clinical sig nificance because it has been identified in 29.7% (2082/47020) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/ dbSNP rs2340917).
Eurofins Ntd Llc (ga)	RCV000039389	SCV000114144	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039389	SCV000153046	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000039389	SCV000168991	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.
PreventionGenetics, part of Exact Sciences	RCV000039389	SCV000314288	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244862	SCV000317504	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: 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.
Color Diagnostics, LLC DBA Color Health	RCV000771044	SCV000902545	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Mendelics	RCV000987121	SCV001136326	benign	Arrhythmogenic right ventricular dysplasia 5	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000987121	SCV001716417	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987121	SCV002098522	benign	Arrhythmogenic right ventricular dysplasia 5	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838544	SCV002098523	benign	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	2021-09-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039389	SCV001739547	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039389	SCV001922764	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039389	SCV001927619	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039389	SCV001951653	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039389	SCV001976058	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000771044	SCV003802995	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing