ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.73A>G (p.Ile25Val)

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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 RCV003508585 SCV004281710 uncertain significance MHC class I deficiency 2023-05-07 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs752996039, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 25 of the TAPBP protein (p.Ile25Val). 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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