ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1852G>T (p.Ala618Ser)

dbSNP: rs1582565271
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 RCV000804456 SCV000944367 uncertain significance MHC class I deficiency 2018-12-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TAP2-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: Not Available; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 618 of the TAP2 protein (p.Ala618Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.

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.