ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.591+1G>C (rs200610775)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824638 SCV000965543 uncertain significance Primary dilated cardiomyopathy 2020-08-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the TXNRD2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs200610775, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with TXNRD2-related disease. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TXNRD2 cause disease. 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.
GeneDx RCV001575191 SCV001802130 uncertain significance not provided 2019-10-28 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 666196; Landrum et al., 2016); Canonical splice site variant expected to result in aberrant splicing; however, splice outcome is unknown, and loss-of-function is not a well established mechanism of disease for the TXNRD2 gene

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