Submissions for variant NM_006440.5(TXNRD2):c.177C>T (p.Ala59=)

gnomAD frequency: 0.50192  dbSNP: rs5748470

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000254410	SCV000317609	benign	Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000420580	SCV000524349	benign	not specified	2016-09-23	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	RCV001520754	SCV001729935	benign	Primary dilated cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244725	SCV002514831	benign	Glucocorticoid deficiency 5	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004712231	SCV005275338	benign	not provided		criteria provided, single submitter	not provided