ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1345C>T (p.Arg449Ter)

gnomAD frequency: 0.00003  dbSNP: rs765335850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001334529 SCV001581536 pathogenic MHC class I deficiency 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg449*) 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 (rs765335850, gnomAD 0.08%). This premature translational stop signal has been observed in individual(s) with HLA class I (also known as MHC class I) deficiency (PMID: 23662797). ClinVar contains an entry for this variant (Variation ID: 1032425). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003433119 SCV004161453 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing TAP2: PM2, PVS1:Moderate, PS4:Supporting

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