ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)

gnomAD frequency: 0.00064  dbSNP: rs201503021
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458649 SCV000557816 likely benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000458649 SCV000679917 uncertain significance Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618863 SCV000736491 likely benign Cardiovascular phenotype 2019-12-08 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 RCV001528560 SCV001804069 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21247928)
PreventionGenetics, part of Exact Sciences RCV003418211 SCV004114737 uncertain significance TXNRD2-related disorder 2022-09-08 criteria provided, single submitter clinical testing The TXNRD2 c.858G>C variant is predicted to result in the amino acid substitution p.Arg286Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-19883021-C-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528560 SCV001740470 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528560 SCV001970772 likely benign not provided no assertion criteria provided clinical testing

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