ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.*38G>A

gnomAD frequency: 0.00001  dbSNP: rs1322624685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002614 SCV002257087 uncertain significance MHC class I deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 700 of the TAP2 protein (p.Arg700Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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