Submissions for variant NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu)

gnomAD frequency: 0.00106  dbSNP: rs200606822

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000521881	SCV000618207	likely benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics	RCV000621919	SCV000736361	likely benign	Cardiovascular phenotype	2018-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Invitae	RCV001082162	SCV001003140	likely benign	Primary dilated cardiomyopathy	2023-12-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942710	SCV004761785	likely benign	TXNRD2-related condition	2022-11-19	criteria provided, single submitter	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).