ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3223C>T (p.Arg1075Trp)

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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 RCV002589060 SCV002941178 uncertain significance MHC class II deficiency 2023-07-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1906513). This missense change has been observed in individual(s) with clinical features of Bare lymphocyte syndrome type II (PMID: 29095814, 33386785). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1075 of the CIITA protein (p.Arg1075Trp).

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