ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2539G>A (p.Val847Ile)

gnomAD frequency: 0.00001  dbSNP: rs181710482
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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 RCV000807406 SCV000947454 uncertain significance MHC class II deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 847 of the CIITA protein (p.Val847Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The isoleucine 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.
Natera, Inc. RCV000807406 SCV002093743 uncertain significance MHC class II deficiency 2021-06-10 no assertion criteria provided clinical testing

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