Submissions for variant NM_024334.3(TMEM43):c.45C>A (p.Val15=)

gnomAD frequency: 0.00041  dbSNP: rs150334659

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154852	SCV000204534	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Val15Val in exon 2 of TMEM43: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (6/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs150334659). Val15Val in exon 2 of TMEM43 (rs150334659; allele frequency = 0.2%, 6/3738) **
GeneDx	RCV000154852	SCV000236424	benign	not specified	2014-07-10	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560419	SCV000642100	benign	Arrhythmogenic right ventricular dysplasia 5	2025-01-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001191839	SCV001359753	benign	Cardiomyopathy	2019-01-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154852	SCV001623434	benign	not specified	2021-05-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336324	SCV002639956	likely benign	Cardiovascular phenotype	2017-12-29	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.
All of Us Research Program, National Institutes of Health	RCV000560419	SCV004841455	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154852	SCV001921951	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726009	SCV001967632	likely benign	not provided		no assertion criteria provided	clinical testing