ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)

gnomAD frequency: 0.00029  dbSNP: rs138790505
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735379 SCV000854534 uncertain significance Colitis; Inflammation of the large intestine; Hematochezia; Thrombocytopenia criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000791950 SCV000931221 uncertain significance MHC class II deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1115 of the CIITA protein (p.Ser1115Asn). This variant is present in population databases (rs138790505, gnomAD 0.1%). 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: 598994). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Baylor Genetics RCV001332302 SCV001524570 uncertain significance Rheumatoid arthritis 2019-11-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002485949 SCV002787882 uncertain significance MHC class II deficiency; Rheumatoid arthritis 2022-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692214 SCV005194225 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000791950 SCV001462364 uncertain significance MHC class II deficiency 2020-09-16 no assertion criteria provided clinical testing

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