ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.634G>A (p.Gly212Ser)

gnomAD frequency: 0.00004  dbSNP: rs371603958
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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 RCV001220583 SCV001392581 uncertain significance MHC class I deficiency 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 212 of the TAPBP protein (p.Gly212Ser). This variant is present in population databases (rs371603958, gnomAD 0.005%). 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: 949179). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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