ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys)

gnomAD frequency: 0.00001  dbSNP: rs372705496
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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 RCV001248570 SCV001422068 uncertain significance MHC class II deficiency 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 647 of the CIITA protein (p.Arg647Cys). This variant is present in population databases (rs372705496, gnomAD 0.003%). 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: 972518). 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.
Fulgent Genetics, Fulgent Genetics RCV002491849 SCV002784438 uncertain significance MHC class II deficiency; Rheumatoid arthritis 2021-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248570 SCV002093716 uncertain significance MHC class II deficiency 2021-08-10 no assertion criteria provided clinical testing

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