ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.464C>G (p.Ala155Gly)

gnomAD frequency: 0.00003  dbSNP: rs747106102
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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 RCV000527275 SCV000642049 uncertain significance MHC class I deficiency 2023-02-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 466398). This variant is present in population databases (rs747106102, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 155 of the TAPBP protein (p.Ala155Gly).

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