ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln)

dbSNP: rs143304499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202916 SCV001374051 uncertain significance MHC class II deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 705 of the CIITA protein (p.Glu705Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs143304499, ExAC 0.01%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002484089 SCV002790479 uncertain significance MHC class II deficiency; Rheumatoid arthritis 2021-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003373022 SCV004093694 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.2113G>C (p.E705Q) alteration is located in exon 11 (coding exon 11) of the CIITA gene. This alteration results from a G to C substitution at nucleotide position 2113, causing the glutamic acid (E) at amino acid position 705 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001202916 SCV002093726 uncertain significance MHC class II deficiency 2020-02-21 no assertion criteria provided clinical testing

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