ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1348-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317070 SCV001507714 uncertain significance Primary dilated cardiomyopathy 2020-10-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 of the TXNRD2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TXNRD2 cause disease. This variant is present in population databases (rs768600057, ExAC 0.01%). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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