ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.482C>G (p.Ala161Gly)

gnomAD frequency: 0.00001  dbSNP: rs763457920
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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 RCV001359746 SCV001555628 uncertain significance MHC class II deficiency 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 161 of the CIITA protein (p.Ala161Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs763457920, ExAC 0.003%). 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.
Natera, Inc. RCV001359746 SCV002090694 uncertain significance MHC class II deficiency 2020-03-04 no assertion criteria provided clinical testing

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