Submissions for variant NM_001290043.2(TAP2):c.1082A>G (p.Gln361Arg)

gnomAD frequency: 0.00001  dbSNP: rs1438157532

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001220035	SCV001392006	uncertain significance	MHC class I deficiency	2019-06-12	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine with arginine at codon 361 of the TAP2 protein (p.Gln361Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TAP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The arginine 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.