ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.97C>G (p.Gln33Glu)

gnomAD frequency: 0.00009  dbSNP: rs775446813
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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 RCV001345246 SCV001539352 uncertain significance MHC class I deficiency 2022-04-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 33 of the TAP2 protein (p.Gln33Glu). This variant is present in population databases (rs775446813, gnomAD 0.01%). 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: 1041438). 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.
Ambry Genetics RCV004036452 SCV004962552 uncertain significance Inborn genetic diseases 2023-11-07 criteria provided, single submitter clinical testing The c.97C>G (p.Q33E) alteration is located in exon 2 (coding exon 1) of the TAP2 gene. This alteration results from a C to G substitution at nucleotide position 97, causing the glutamine (Q) at amino acid position 33 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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