ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.946-5T>C

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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 RCV002639800 SCV002985164 uncertain significance MHC class I deficiency 2022-06-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with TAP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the TAP2 gene. It does not directly change the encoded amino acid sequence of the TAP2 protein.

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