ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.1A>G (p.Met1Val)

dbSNP: rs775391251
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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 RCV002032078 SCV002312088 uncertain significance MHC class I deficiency 2021-10-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TAP2 mRNA. The next in-frame methionine is located at codon 138. This variant is present in population databases (rs775391251, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. 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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