Submissions for variant NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)

gnomAD frequency: 0.00002  dbSNP: rs532872056

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152049	SCV000200646	benign	not specified	2020-09-22	criteria provided, single submitter	clinical testing	The p.Thr277Ser variant in TMEM43 is classified as benign because it has been identified in 0.6% (198/30616) of South Asian chromosomes, including 1 homozygote, by gnomAD ( http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx	RCV000152049	SCV000236453	likely benign	not specified	2016-07-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861886	SCV001002300	benign	Arrhythmogenic right ventricular dysplasia 5	2025-01-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001190171	SCV001357601	benign	Cardiomyopathy	2018-11-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000152049	SCV002103984	likely benign	not specified	2022-02-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426722	SCV002679271	likely benign	Cardiovascular phenotype	2020-07-22	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.
PreventionGenetics, part of Exact Sciences	RCV003975186	SCV004789167	benign	TMEM43-related disorder	2019-07-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).