ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.342C>G (p.Asn114Lys)

dbSNP: rs778522290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336548 SCV001529954 uncertain significance MHC class I deficiency 2018-02-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001336548 SCV002245048 uncertain significance MHC class I deficiency 2023-03-13 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1033979). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs778522290, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 114 of the TAPBP protein (p.Asn114Lys).

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