ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1113G>A (p.Ala371=)

gnomAD frequency: 0.00002  dbSNP: rs745421312
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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 RCV001400614 SCV001602420 likely benign Primary dilated cardiomyopathy 2023-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438923 SCV002750356 likely benign Cardiovascular phenotype 2020-10-28 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704528 SCV005208967 likely benign not provided criteria provided, single submitter not provided

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