ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter)

gnomAD frequency: 0.00004  dbSNP: rs143800384
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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 RCV001206562 SCV001377875 pathogenic MHC class I deficiency 2024-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg438*) in the TAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAP1 are known to be pathogenic (PMID: 10074494, 10074495). This variant is present in population databases (rs143800384, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with bare lymphocyte syndrome (PMID: 16624613). ClinVar contains an entry for this variant (Variation ID: 937533). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001206562 SCV003819832 pathogenic MHC class I deficiency 2022-03-30 criteria provided, single submitter clinical testing

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