Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000800763 | SCV000940495 | uncertain significance | MHC class I deficiency | 2018-10-13 | criteria provided, single submitter | clinical testing | This variant is a deletion of the genomic region encompassing exon 3 and part of exon 2 (c.129_470-3609del) of the TAPBP gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TAPBP-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TAPBP 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. |