ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln)

gnomAD frequency: 0.00015  dbSNP: rs373810087
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528112 SCV000642029 uncertain significance MHC class I deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 438 of the TAP1 protein (p.Arg438Gln). This variant is present in population databases (rs373810087, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with TAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 466379). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000528112 SCV001190470 uncertain significance MHC class I deficiency 2021-03-30 criteria provided, single submitter clinical testing TAP1 NM_000593.5 exon 5 p.Arg438Gln (c.1313G>A): This variant has not been reported in the literature but is present in 0.06% (12/19954) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/6-32818212-C-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:466379). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726227 SCV001962770 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726227 SCV001971094 uncertain significance not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.