ClinVar Miner

Submissions for variant NM_002227.4(JAK1):c.2425C>T (p.Arg809Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004689557 SCV005186149 likely pathogenic Autoinflammation, immune dysregulation, and eosinophilia 2024-08-05 criteria provided, single submitter clinical testing 45-year-old patient with interstitial lung disease, systemic connective tissue involvement, autoinflammatory disease, thrombocytopenia, anemia, interstitial pneumonitis, splenomegaly, vasculitis, cervical cancer, and uveitis. Additionally, there is a family history of mother with pemphigus, uncles and grandparents with a history of gastric cancer, prostate cancer, and breast cancer. Sibling with early-onset cirrhosis, pneumonia, and fibromyalgia, who also presents the same variant in the JAK1 gene as the patient.
GeneDx RCV004780749 SCV005390519 uncertain significance not provided 2024-03-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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