Submissions for variant NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile)

gnomAD frequency: 0.00104  dbSNP: rs201222740

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620034	SCV000737113	likely benign	Cardiovascular phenotype	2016-07-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001437103	SCV001639949	likely benign	Primary dilated cardiomyopathy	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001575610	SCV001802643	likely benign	not provided	2020-12-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928032	SCV004744855	likely benign	TXNRD2-related disorder	2022-08-16	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).