ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1008C>T (p.Pro336=)

gnomAD frequency: 0.00005  dbSNP: rs746370708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476814 SCV001681029 likely benign Primary dilated cardiomyopathy 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449266 SCV002733719 likely benign Cardiovascular phenotype 2019-08-27 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.
PreventionGenetics, part of Exact Sciences RCV003921008 SCV004733109 likely benign TXNRD2-related disorder 2022-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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