ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1606C>T (p.Gln536Ter)

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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 RCV002806877 SCV003200094 pathogenic MHC class I deficiency 2024-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln536*) in the TAP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAP2 are known to be pathogenic (PMID: 7517574, 11529920, 12067308, 23662797). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1996596). For these reasons, this variant has been classified as Pathogenic.

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