ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213779 SCV001385429 uncertain significance Primary dilated cardiomyopathy 2020-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala30Glyfs*14) in the TXNRD2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 create or strengthen a 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.

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