ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1877G>A (p.Arg626Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002877299 SCV003241413 uncertain significance MHC class I deficiency 2022-06-13 criteria provided, single submitter clinical testing 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 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. This variant has not been reported in the literature in individuals affected with TAP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 626 of the TAP2 protein (p.Arg626Gln).
Ambry Genetics RCV004966136 SCV005513160 uncertain significance Inborn genetic diseases 2024-10-08 criteria provided, single submitter clinical testing The c.1877G>A (p.R626Q) alteration is located in exon 11 (coding exon 10) of the TAP2 gene. This alteration results from a G to A substitution at nucleotide position 1877, causing the arginine (R) at amino acid position 626 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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