ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1339C>G (p.His447Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229963 SCV003927290 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18602572)
Undiagnosed Diseases Network, NIH RCV003992757 SCV004812039 uncertain significance STAT3-related early-onset multisystem autoimmune disease 2024-02-28 no assertion criteria provided clinical testing

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