ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2755C>G (p.Pro919Ala)

dbSNP: rs1302154334
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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 RCV001873108 SCV002144181 uncertain significance MHC class II deficiency 2021-11-11 criteria provided, single submitter clinical testing 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 919 of the CIITA protein (p.Pro919Ala).

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