ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1182T>C (p.Asn394=)

dbSNP: rs1938724361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316526 SCV001507151 uncertain significance Primary dilated cardiomyopathy 2020-06-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 394 of the TXNRD2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TXNRD2 protein. This variant has not been reported in the literature in individuals with TXNRD2-related conditions. 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies.

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