ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1130G>C (p.Ser377Thr)

gnomAD frequency: 0.00001  dbSNP: rs765530997
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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 RCV001056102 SCV001220522 uncertain significance MHC class II deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 377 of the CIITA protein (p.Ser377Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs765530997, ExAC 0.002%). 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. 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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