ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.1049C>T (p.Ser350Leu)

gnomAD frequency: 0.00003  dbSNP: rs374308480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788127 SCV000927136 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003619720 SCV004449174 uncertain significance MHC class I deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 350 of the TAPBP protein (p.Ser350Leu). This variant is present in population databases (rs374308480, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 636341). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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