ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.934_935delinsTT (p.Glu312Leu)

dbSNP: rs2150960747
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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 RCV001937527 SCV002129216 uncertain significance MHC class I deficiency 2021-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This sequence change replaces glutamic acid with leucine at codon 312 of the TAPBP protein (p.Glu312Leu). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and leucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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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