ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2491G>A (p.Gly831Ser)

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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 RCV003084508 SCV003479174 uncertain significance MHC class II deficiency 2022-03-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 831 of the CIITA protein (p.Gly831Ser). This variant is present in population databases (rs759652613, gnomAD 0.004%). 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 serine 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.
Ambry Genetics RCV003269446 SCV003950094 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.2491G>A (p.G831S) alteration is located in exon 11 (coding exon 11) of the CIITA gene. This alteration results from a G to A substitution at nucleotide position 2491, causing the glycine (G) at amino acid position 831 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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