ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1180C>T (p.Arg394Cys)

dbSNP: rs545499119
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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 RCV000701410 SCV000830210 uncertain significance MHC class I deficiency 2022-03-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 578410). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs545499119, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 394 of the TAPBP protein (p.Arg394Cys). 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.

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