ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn)

dbSNP: rs587777650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001254616 SCV001430634 likely pathogenic STAT3-related early-onset multisystem autoimmune disease 2020-06-04 criteria provided, single submitter clinical testing This STAT3 variant is absent from a large population dataset and has an entry in ClinVar. It has been reported in two unrelated patients with autosomal dominant infantile-onset multisystem autoimmune disease-1. Independent functional studies have shown that the p.Lys658Asn substitution confers hypersensitivity to interleukins resulting in persistent activation of STAT3 signaling in vitro. This variant is not predicted to affect normal exon 21 splicing, although this has not been confirmed experimentally to our knowledge. We consider c.1974G>T to be likely pathogenic.

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