ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1484T>G (p.Leu495Arg)

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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 RCV003058493 SCV003441822 uncertain significance MHC class II deficiency 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 495 of the CIITA protein (p.Leu495Arg). This variant is present in population databases (rs756482982, gnomAD 0.0009%). This missense change has been observed in individual(s) with MHC class II deficiency (PMID: 27484032). 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 disruptive. 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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