ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.1005del (p.Pro336fs)

gnomAD frequency: 0.00001  dbSNP: rs770072323
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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 RCV001942158 SCV002228807 pathogenic MHC class I deficiency 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro396Leufs*62) 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 (rs770072323, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455001). For these reasons, this variant has been classified as Pathogenic.

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