ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2179G>A (p.Glu727Lys)

dbSNP: rs548646642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339640 SCV001533396 uncertain significance MHC class II deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 727 of the CIITA protein (p.Glu727Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs548646642, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. 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.
Natera, Inc. RCV001339640 SCV002093729 uncertain significance MHC class II deficiency 2021-09-08 no assertion criteria provided clinical testing

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