ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.563C>T (p.Thr188Ile)

gnomAD frequency: 0.00047  dbSNP: rs142455342
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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 RCV000642389 SCV000764058 likely benign MHC class I deficiency 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025643 SCV004962554 uncertain significance not specified 2021-10-12 criteria provided, single submitter clinical testing The c.563C>T (p.T188I) alteration is located in exon 4 (coding exon 4) of the TAPBP gene. This alteration results from a C to T substitution at nucleotide position 563, causing the threonine (T) at amino acid position 188 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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