ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.543C>T (p.Ala181=)

gnomAD frequency: 0.00011  dbSNP: rs367754522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628828 SCV000749735 likely benign Primary dilated cardiomyopathy 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343188 SCV002652251 likely benign Cardiovascular phenotype 2022-06-12 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530109 SCV001744754 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530109 SCV001968791 likely benign not provided no assertion criteria provided clinical testing

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