ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1186G>A (p.Ala396Thr)

gnomAD frequency: 0.00003  dbSNP: rs375664511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039439 SCV001202969 uncertain significance MHC class I deficiency 2024-01-03 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 396 of the TAPBP protein (p.Ala396Thr). This variant is present in population databases (rs375664511, gnomAD 0.007%). 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: 837985). 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. 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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