Submissions for variant NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)

gnomAD frequency: 0.00021  dbSNP: rs141675061

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152050	SCV000200651	likely benign	not specified	2013-05-30	criteria provided, single submitter	clinical testing	Ala365Ala in exon 12 of TMEM43: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in (4/8600) European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS/; dbSNP rs141675061). Ala365Ala in exon 12 of TMEM43 (rs141675061 ; allele frequency = 4/8600) **
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229733	SCV000290712	likely benign	Arrhythmogenic right ventricular dysplasia 5	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244626	SCV000319931	likely benign	Cardiovascular phenotype	2015-07-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001704094	SCV000514908	likely benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001183977	SCV001349839	likely benign	Cardiomyopathy	2018-10-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000152050	SCV002819858	benign	not specified	2022-12-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000229733	SCV004841611	likely benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965133	SCV004783862	likely benign	TMEM43-related disorder	2023-02-10	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).