ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.934C>T (p.Arg312Ter)

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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 RCV003112278 SCV003786612 pathogenic MHC class I deficiency 2022-04-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg372*) 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 (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TAP1-related conditions.

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