ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.997C>T (p.Arg333Trp)

gnomAD frequency: 0.00001  dbSNP: rs1322324230
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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 RCV001943660 SCV002188589 uncertain significance MHC class I deficiency 2021-02-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 333 of the TAP2 protein (p.Arg333Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TAP2-related conditions. This variant is not present in population databases (ExAC no frequency).

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