ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1444G>A (p.Glu482Lys)

gnomAD frequency: 0.00001  dbSNP: rs772224355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696884 SCV000825464 uncertain significance MHC class II deficiency 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 482 of the CIITA protein (p.Glu482Lys). This variant is present in population databases (rs772224355, gnomAD 0.004%). 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: 574840). 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493706 SCV004242673 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000696884 SCV001462174 uncertain significance MHC class II deficiency 2020-04-24 no assertion criteria provided clinical testing

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