ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.206T>A (p.Leu69His)

dbSNP: rs1243711584
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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 RCV001222178 SCV001394266 uncertain significance MHC class I deficiency 2019-07-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with histidine at codon 69 of the TAP2 protein (p.Leu69His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. This variant has not been reported in the literature in individuals with TAP2-related conditions. 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. 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0").

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