ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2192A>G (p.Lys731Arg)

gnomAD frequency: 0.00004  dbSNP: rs372853839
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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 RCV001366249 SCV001562546 uncertain significance MHC class II deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 731 of the CIITA protein (p.Lys731Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs372853839, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001366249 SCV002093731 uncertain significance MHC class II deficiency 2020-11-20 no assertion criteria provided clinical testing

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