ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.974G>A (p.Gly325Asp)

gnomAD frequency: 0.00029  dbSNP: rs200280998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818817 SCV000959450 uncertain significance MHC class I deficiency 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 325 of the TAPBP protein (p.Gly325Asp). This variant is present in population databases (rs200280998, gnomAD 0.09%), 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: 661409). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The aspartic acid 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693378 SCV005188899 uncertain significance not provided criteria provided, single submitter not provided

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