ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1176C>T (p.Tyr392=)

gnomAD frequency: 0.00006  dbSNP: rs544242322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442676 SCV000532292 likely benign not specified 2016-10-06 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.
Ambry Genetics RCV000619724 SCV000735713 likely benign Cardiovascular phenotype 2016-12-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059952 SCV002477206 likely benign Primary dilated cardiomyopathy 2021-03-10 criteria provided, single submitter clinical testing

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