ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.82G>A (p.Gly28Arg)

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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 RCV003826485 SCV004626146 uncertain significance MHC class I deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 28 of the TAP2 protein (p.Gly28Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004968487 SCV005513163 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.82G>A (p.G28R) alteration is located in exon 2 (coding exon 1) of the TAP2 gene. This alteration results from a G to A substitution at nucleotide position 82, causing the glycine (G) at amino acid position 28 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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