ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.364A>G (p.Ile122Val)

dbSNP: rs569955853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232323 SCV001404876 uncertain significance MHC class II deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 122 of the CIITA protein (p.Ile122Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs569955853, ExAC 0.006%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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