ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.845del (p.Val282fs)

gnomAD frequency: 0.00004  dbSNP: rs765712832
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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 RCV000642358 SCV000764027 uncertain significance MHC class I deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val282Alafs*15) 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 (rs765712832, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 534706). 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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