ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1147C>T (p.Arg383Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005084545 SCV005711409 uncertain significance MHC class I deficiency 2024-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg383*) in the TAPBP gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TAPBP cause disease. This variant is present in population databases (rs79026906, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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