ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2294C>G (p.Pro765Arg)

gnomAD frequency: 0.00001  dbSNP: rs892019941
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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 RCV001951833 SCV002190872 uncertain significance MHC class II deficiency 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 765 of the CIITA protein (p.Pro765Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CIITA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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