ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.189G>C (p.Glu63Asp)

gnomAD frequency: 0.00002  dbSNP: rs752556005
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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 RCV001042653 SCV001206350 uncertain significance MHC class I deficiency 2023-04-07 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 840616). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs752556005, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 63 of the TAPBP protein (p.Glu63Asp).

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