ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1371C>T (p.Gly457=)

gnomAD frequency: 0.00001  dbSNP: rs1278278715
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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 RCV001866411 SCV002123570 uncertain significance MHC class I deficiency 2022-08-22 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1354422). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects codon 457 of the TAP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TAP2 protein.

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