ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1377G>A (p.Pro459=)

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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 RCV002663932 SCV003523058 uncertain significance MHC class II deficiency 2024-09-06 criteria provided, single submitter clinical testing This sequence change affects codon 459 of the CIITA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CIITA protein. This variant is present in population databases (rs749946306, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. ClinVar contains an entry for this variant (Variation ID: 2201829). 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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