ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.574G>A (p.Ala192Thr)

gnomAD frequency: 0.00031  dbSNP: rs146216992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036980 SCV001200371 uncertain significance MHC class I deficiency 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 192 of the TAPBP protein (p.Ala192Thr). This variant is present in population databases (rs146216992, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 835970). 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 threonine 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.
Ambry Genetics RCV004031016 SCV004962556 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The c.574G>A (p.A192T) alteration is located in exon 4 (coding exon 4) of the TAPBP gene. This alteration results from a G to A substitution at nucleotide position 574, causing the alanine (A) at amino acid position 192 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693459 SCV005188900 uncertain significance not provided criteria provided, single submitter not provided

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