ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.224del (p.Leu75fs)

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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 RCV002979017 SCV003289840 pathogenic MHC class I deficiency 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu75Argfs*5) 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 present in population databases (no rsID available, gnomAD 0.0009%). 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: 2075917). For these reasons, this variant has been classified as Pathogenic.

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