ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2522C>G (p.Thr841Arg)

dbSNP: rs1159888268
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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 RCV001220203 SCV001392179 uncertain significance MHC class II deficiency 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 841 of the CIITA protein (p.Thr841Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001220203 SCV002093741 uncertain significance MHC class II deficiency 2020-09-22 no assertion criteria provided clinical testing

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