Submissions for variant NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)

gnomAD frequency: 0.00006  dbSNP: rs201138253

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516693	SCV000615820	uncertain significance	not specified	2017-02-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000642424	SCV000764102	likely benign	Arrhythmogenic right ventricular dysplasia 5	2023-12-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001178361	SCV001342779	likely benign	Cardiomyopathy	2020-03-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811023	SCV001474630	likely benign	not provided	2020-02-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413401	SCV002675974	benign	Cardiovascular phenotype	2022-03-14	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.
GeneDx	RCV001811023	SCV003805866	uncertain significance	not provided	2022-08-26	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences	RCV004748803	SCV005354793	likely benign	TMEM43-related disorder	2024-06-26	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).