ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1183-4T>C

dbSNP: rs776316388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002585101 SCV003489465 uncertain significance Primary dilated cardiomyopathy 2022-07-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs776316388, gnomAD 0.009%). This sequence change falls in intron 13 of the TXNRD2 gene. It does not directly change the encoded amino acid sequence of the TXNRD2 protein.

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