ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.158T>C (p.Leu53Pro)

dbSNP: rs1769551001
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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 RCV001226159 SCV001398459 uncertain significance MHC class I deficiency 2023-09-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 953811). 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 replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 53 of the TAP2 protein (p.Leu53Pro). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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