ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1655A>G (p.Glu552Gly)

gnomAD frequency: 0.00031  dbSNP: rs151064661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793974 SCV000933356 uncertain significance MHC class I deficiency 2022-11-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 552 of the TAP2 protein (p.Glu552Gly). This variant is present in population databases (rs151064661, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 640861). 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"). 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.
New York Genome Center RCV000793974 SCV002099052 uncertain significance MHC class I deficiency 2021-03-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692254 SCV005188889 uncertain significance not provided criteria provided, single submitter not provided

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