Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV000788126 | SCV000927135 | likely pathogenic | not provided | 2017-01-26 | criteria provided, single submitter | clinical testing | |
| Ai |
RCV000788126 | SCV002502259 | likely pathogenic | not provided | 2022-03-17 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003507313 | SCV004306272 | uncertain significance | MHC class I deficiency | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg207*) 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 (rs767195857, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. 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: 636340). 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004768649 | SCV005381754 | uncertain significance | not specified | 2024-08-27 | criteria provided, single submitter | clinical testing | Variant summary: TAPBP c.619C>T (p.Arg207X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however current evidence is not sufficient to establish loss of function as a mechanism for disease. The variant allele was found at a frequency of 9.6e-05 in 249252 control chromosomes in the gnomAD database, including 1 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in TAPBP causing MHC Class I Deficiency 3, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.619C>T in individuals affected with MHC Class I Deficiency 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 636340). Based on the evidence outlined above, the variant was classified as uncertain significance. |