ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.568G>A (p.Glu190Lys)

gnomAD frequency: 0.00003  dbSNP: rs544121607
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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 RCV001318000 SCV001508686 uncertain significance MHC class I deficiency 2023-07-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 190 of the TAPBP protein (p.Glu190Lys). This variant is present in population databases (rs544121607, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018666). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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