ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1175C>T (p.Ser392Leu)

gnomAD frequency: 0.00001  dbSNP: rs576739119
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204385 SCV001375590 uncertain significance MHC class I deficiency 2019-10-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with TAPBP-related conditions. This variant is present in population databases (rs576739119, ExAC 0.03%). This sequence change replaces serine with leucine at codon 392 of the TAPBP protein (p.Ser392Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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.