ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1101G>A (p.Trp367Ter)

gnomAD frequency: 0.00001  dbSNP: rs781370484
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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 RCV001958966 SCV002245330 pathogenic MHC class I deficiency 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TAP2-related conditions. This variant is present in population databases (rs781370484, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Trp367*) 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).

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