ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.369G>A (p.Trp123Ter)

dbSNP: rs1554279286
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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 RCV000642362 SCV000764031 uncertain significance MHC class I deficiency 2017-10-08 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TAPBP cause disease. This variant has not been reported in the literature in individuals with TAPBP-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp123*) in the TAPBP gene. It is expected to result in an absent or disrupted protein product.

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