ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1272+6C>T

gnomAD frequency: 0.00003  dbSNP: rs773119824
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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 RCV001327598 SCV001518682 uncertain significance MHC class I deficiency 2022-07-13 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the TAP2 gene. It does not directly change the encoded amino acid sequence of the TAP2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs773119824, gnomAD 0.004%). 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: 1027053). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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