ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.1056+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810655 SCV000950880 uncertain significance Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 2018-09-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 7) of the TRNT1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs369179242, ExAC 0.002%). This variant has not been reported in the literature in individuals with TRNT1-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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