ClinVar Miner

Submissions for variant NM_003745.2(SOCS1):c.476_480dup (p.Met161fs)

dbSNP: rs1470306246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311426 SCV001501592 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine RCV001254899 SCV001430915 likely pathogenic Autoimmune hemolytic anemia; Autoimmune thrombocytopenia 2020-01-01 no assertion criteria provided research
Department of Immunology, Beijing Children's Hospital of Capital Medical University RCV004719119 SCV005326493 pathogenic Autoinflammatory syndrome with immunodeficiency 2022-01-08 no assertion criteria provided clinical testing The SOCS1 c.480_481insGCCGC (p.M161Afs*46) variant is classified as pathogenic based on it being a frameshift insertion predicted to result in a truncated or absent protein (PVS1), its rarity in population databases (PM2_Supporting), and published literature and ClinVar entries supporting its role in autoimmune disease (PS4). This variant is associated with autosomal dominant Autoimmune inflammatory syndrome, familial, with or without immunodeficiency (OMIM: 619375), which is characterized by a variety of autoimmune features.

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