ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.7T>A (p.Ser3Thr)

gnomAD frequency: 0.00001  dbSNP: rs553927768
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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 RCV001921886 SCV002156260 uncertain significance MHC class I deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3 of the TAPBP protein (p.Ser3Thr). This variant is present in population databases (rs553927768, 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: 1381174). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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