ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1324C>T (p.Leu442Phe)

gnomAD frequency: 0.00001  dbSNP: rs1357669000
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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 RCV001921706 SCV002203986 uncertain significance MHC class II deficiency 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 442 of the CIITA protein (p.Leu442Phe). 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 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"). ClinVar contains an entry for this variant (Variation ID: 1424497). 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 0.0008%).

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