ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.67C>T (p.Leu23Phe)

dbSNP: rs756204249
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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 RCV002032996 SCV002112662 uncertain significance MHC class I deficiency 2023-07-17 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 functional significance of this variant is currently unknown. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 23 of the TAP2 protein (p.Leu23Phe). This variant is present in population databases (rs756204249, gnomAD 0.001%). 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: 1347129).

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