ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)

gnomAD frequency: 0.00036  dbSNP: rs201913959
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541120 SCV000623495 likely benign Primary dilated cardiomyopathy 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617177 SCV000735743 likely benign Cardiovascular phenotype 2020-07-24 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.
GeneDx RCV001775841 SCV002012532 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224313 SCV003920613 uncertain significance Glucocorticoid deficiency 5 2021-03-30 criteria provided, single submitter clinical testing TXNRD2 NM_006440.4 exon 8 p.Ser217Tyr (c.650C>A): This variant has not been reported in the literature and is present in 0.1% (30/24198) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/22-19898912-G-T). This variant is present in ClinVar (Variation ID:454286). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.