ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.888C>A (p.Asp296Glu)

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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 RCV002967505 SCV003287106 uncertain significance MHC class II deficiency 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 296 of the CIITA protein (p.Asp296Glu). This variant is present in population databases (rs754504346, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This missense change has been observed to be homozygous or hemizygous in an individual who did not have the expected clinical features for that genetic result (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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